Intraocular Tumors of Childhood: Four Intraocular Locations (Ie, Structures/tissues)

1
Intraocular Tumors of Childhood
? Four intraocular locations (ie, structures/tissues)
?
2
Iris/Ciliary Body
Choroid Four intraocular locations (ie, structures/tissues)
RPE
Retina
3

1) ?(JXG): Nonneoplastic histiocytic proliferation. <2 years old.
+/- skin papules. Iris nodules bleedhyphemaincreased IOPglaucoma. Self-limited;
regresses by age 5. Treat inflammation and IOP. Path: Touton giant cells.
2) ? : Benign but locally aggressive neoplasia of
nonpigmented epithelium of CB. Presents: Iris mass before age 10 years. Can
Iris/Ciliary Body bleedhyphemaincreased IOPglaucoma. Six tumors of the iris/ciliary
Locally invasivedeath. body
Tx: Enucleate.
3) ?: Strong association with NF1. Lighter on dark irides; darker on light.
4) ?: Strong association with Down syndrome; 15% of non-Down pop.
5) ?
: Tiny, numerous. Same color as iris. Weak association with NF1, Nevus of Ota.
6) ?: Can be pupillary, stromal, secondary.
Choroid
RPE
Retina
4

1) Juvenile xanthogranuloma (JXG): Nonneoplastic histiocytic proliferation. <2 years old.
regresses by age 5. Treat inflammation and IOP. Path: Touton giant cells.
2) Medulloepithelioma : Benign but locally aggressive neoplasia of
Iris/Ciliary Body bleedhyphemaincreased IOPglaucoma. Six tumors of the iris/ciliary
Locally invasivedeath. body
Tx: Enucleate.
3) Lisch nodules: Strong association with NF1. Lighter on dark irides; darker on light.
4) Brushfield spots: Strong association with Down syndrome; 15% of non-Down pop.
5) Iris mammillations: Tiny, numerous. Same color as iris. Weak association with NF1,
Nevus of Ota.
6) Iris cysts: Can be pupillary, stromal, secondary.
Choroid
RPE
Retina
5

In three words,
regresses by age 5.what
Treatsort of condition
inflammation is JXG?
and IOP. Path: Touton giant cells.
It Medulloepithelioma
2) is a… nonneoplastic histiocytic
: Benign but locallyproliferation
aggressive neoplasia of
Iris/Ciliary Body bleedhyphemaincreased IOPglaucoma. Locally invasivedeath. Tx: Enucleate.
How does JXG usually present? (Hint: It’s not ophthalmic)
AsBrushfield
4) orangishspots:
skin papules
Strong association with Down syndrome; 15% of non-Down pop.
At what
Nevus age does it present?
of Ota.
The
6) Irismajority before
cysts: Can age 1 stromal,
be pupillary, year, and almost all by age 2
secondary.
When JXG iris nodules are present, are they uni-, or bilateral?
Unilateral
Choroid In what three ways are the iris nodules clinically significant?
--They are prone to spontaneous bleeding, with subsequent
hyphema and secondary glaucoma
--They are in the DDx as a ‘masquerade syndrome’ in peds uveitis
--If enough nodules are present, heterochromia iridis will result
RPE What is the natural history of JXG?
It is self-limited, usually resolving by age 5 years
Retina
6

In three words,
2) is a…nonneoplastic histiocytic
: Benign proliferation
but locally aggressive neoplasia of
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
7

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
8

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
9
JXG: Skin papules. The orangish color is classic

10

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
11

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
be pupillary, year, and almost all by 2#
secondary.
Unilateral
Retina
12

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
be pupillary, year, and almost all by 2
secondary.
Unilateral
Retina
13

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
14

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
15
JXG: Iris lesion

16

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
17

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
--If enough nodules are present, heterochromia
two words iridis will result
Retina
18

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
19
JXG: Spontaneous hyphema

20

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
21

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
22

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Retina
23

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Should JXG nodules be removed surgically?
Only if the glaucoma is uncontrollable
Retina
24

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
secondary.
Unilateral
Should JXG nodules be removed surgically?
Only if the glaucoma is uncontrollable
Retina
25

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
pupillary, year, and
stromal, ofalmost
secondary. all by 2
JXG histology?
The presence of Touton giant cells
When JXG
The iris nodules
presence of are present,
’foamy are they uni-, or bilateral?
macrophages’
Unilateral
Retina
26

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
The presence of Touton
eponym giant cells
When JXG
The iris nodules
macrophages’
two words
Unilateral
Retina
27

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Retina
28
Touton giant cells Foamy macrophages
JXG
29

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Choroid
This histology—’foamy
In what threemacrophages’--is
ways are the iris often described
nodules clinicallywith other,
significant?
equivalent --They
terms. What are they?
are prone to spontaneous bleeding, with subsequent
Foamy = ?hyphema and secondary glaucoma
Macrophages = ? are in the DDx as a ‘masquerade syndrome’ in peds uveitis
--They
Retina
30

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Choroid
significant?
equivalent --They
Foamy = ‘lipid filled’
Macrophages = ‘histiocytes’
Retina
31

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Choroid
significant?
equivalent --They
Foamy = ‘lipid filled’
Macrophages = ‘histiocytes’
RPEthe terms
The point being, ‘foamy macrophages,’ ‘lipid-filled (or -laden) macrophages,’
What is the natural history of JXG?
‘foamy histiocytes,’ etc,
It isall mean theusually
self-limited, sameresolving
thing, sobydon’t
age be misled if you see one
5 years
term when you’re expecting another
Retina
32

1) Juvenile xanthogranuloma JXG): Nonneoplastic histiocytic proliferation. <2 years old.
In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking of ‘foamy macrophages’…
What dz comes to mind if, instead of a toddler
with iris nodules, the pt--They
in question was
are in the a as a ‘masquerade syndrome’ in peds uveitis
DDx
middle-aged white guy--If with bilateral
enough panuveitis?
nodules First clue—more
are present, heterochromia forthcoming
iridis will result
And a hx of chronic migratory arthritis?
RPE
Associated with chronicWhatdiarrhea?
is the natural history of JXG?
It is self-limited,
And CNS symptoms--seizures, usuallycoma?
dementia, resolving by age 5 years
Whipple’s disease
Retina
33

1) Juvenile xanthogranuloma ): Nonneoplastic histiocytic proliferation. <2 years old.
In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
nodules are present, heterochromia iridis will result
And a hx of chronic migratory arthritis? Clue #2
RPE
Associated with chronic Whatdiarrhea?
It is self-limited,
Whipple’s disease
Retina
34

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
RPE
is the natural history ofanother?
Need JXG?
It is self-limited,
Whipple’s disease
Retina
35

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
RPE
It is self-limited,
dementia, resolving by age Last
5 years
chance--answer is next!
Whipple’s disease
Retina
36

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
RPE
It is self-limited,
Whipple’s disease
Retina
37

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
RPE
Broadly speaking, what sort of condition is Whipple’s?
It is self-limited,
It is infectious
Whipple’s disease
What infection agent is responsible for Whipple’s?
Retina The bacterium Tropheryma whipplei
38

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
RPE
It is self-limited,
It is infectious
Whipple’s disease
39

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
RPE
It is self-limited,
It is infectious
Whipple’s disease
40

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
in question was
DDx
enough panuveitis?
RPE
It is self-limited,
It is infectious
Whipple’s disease
41

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Choroid When foamy macrophages are found in a biopsy performed

In what three ways are the iris nodules clinically significant?
on a Whipple’s
--They are prone pt, from what sitebleeding,
to spontaneous was the with
biopsy collected?
subsequent
What dz comes to mind if, instead
The duodenum
hyphema
of a young
and secondary glaucoma
child
in question
are in thewasDDxa as a ‘masquerade syndrome’ in peds uveitis
middle-aged white guy--If with
What bilateral
other
enough panuveitis?
finding
nodules will present,
are a duodenal biopsy reveal?
heterochromia iridis will result
The presence
And a hx of chronic migratory arthritis? of acid-fast bacteria within macrophages
RPE
Associated with chronic located
Whatdiarrhea? in natural
is the intestinal villi of JXG?
history
It is self-limited,
It is infectious
Whipple’s disease
42

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral

on a Whipple’s
biopsy collected?
subsequent
The duodenum
hyphema
of a young
(remember,
and secondary
child
they have GI issues)
glaucoma
in question was a
are in the DDx as a ‘masquerade syndrome’ in peds uveitis
What bilateral
other
enough panuveitis?
finding
The presence
RPE
history
It is self-limited,
It is infectious
Whipple’s disease
Whipple’s disease: Duodenal biopsy, high mag. The image shows the characteristic
feature of foamy macrophages in the lamina propria.
44

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral

on a Whipple’s
biopsy collected?
subsequent
The duodenum
hyphema
of a young
(remember,
and secondary
child
glaucoma
in question was a
What bilateral
other
enough panuveitis?
finding
The presence
RPE
history
It is self-limited,
It is infectious
Whipple’s disease
45

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral

on a Whipple’s
biopsy collected?
subsequent
The duodenum
hyphema
of a young
(remember,
and secondary
child
glaucoma
in question was a
What bilateral
other
enough panuveitis?
finding
The presence
And a hx of chronic migratory arthritis? of PAS+
stain bacteria within macrophages located
RPE
Associated with chronic in
What intestinal
diarrhea? villi history of JXG?
is the natural
It is self-limited,
It is infectious
Whipple’s disease
46

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral

on a Whipple’s
biopsy collected?
subsequent
The duodenum
hyphema
of a young
(remember,
and secondary
child
glaucoma
in question was a
What bilateral
other
enough panuveitis?
finding
The presence
And a hx of chronic migratory arthritis? of PAS+ bacteria within macrophages located
RPE
What intestinal
is the natural
It is self-limited,
It is infectious
Whipple’s disease
47
Small-intestine biopsy stained with periodic acid-Schiff. Note the numerous

macrophages in the lamina propria (arrows).
48

In three words,
AsBrushfield
4) orangishspots:
skin papules
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
For more on Whipple’s dz, see slide-set U24
When JXG
The iris nodules
macrophages’
Unilateral

on a Whipple’s
biopsy collected?
subsequent
The duodenum
hyphema
of a young
(remember,
and secondary
child
glaucoma
in question was a
What bilateral
other
enough panuveitis?
finding
The presence
And a hx of chronic migratory arthritis? of PAS+ bacteria within macrophages located
RPE
What intestinal
is the natural
It is self-limited,
It is infectious
Whipple’s disease
49

In three words,
: Benign but locallyproliferation
aggressive neoplasia of
Speaking of foamy macrophages
Iris/Ciliary Body part deaux… IOPglaucoma. Locally invasivedeath. Tx: Enucleate.
bleedhyphemaincreased
What dz comes to mind if,3)instead of a toddler
Lisch nodules: Strong association with NF1. Lighter on dark irides; darker on light.
AsBrushfield
orangishspots:
skin papules
with iris nodules, the pt in 4)
question was a Strong association with Down syndrome; 15% of non-Down pop.
Adult with bilateral upper-lidAt yellow
Nevus what agelesions?
of Ota. does it present?
Xanthelsasma The
(Pic
6) Iris majority
cysts:
What before
forthcoming—give
Can
are theage
bethe
pupillary,
two 1hallmarks
year,
dx after and
seeing
stromal, it)ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Retina
Condition?
51

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Retina
52

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Choroid Are xanthelasmas a harbinger of elevated serum lipids?

They can be, but in most cases the individual has normal lipid
panels
Can they be congenital?
Yes, and when they are, they usually are a sign of lipid derangement
Retina
53

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral

panels
Retina
54

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral

panels
Retina
55

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral

panels
Retina
56

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
foamy macrophages part deaux
In what three ways aredeaux…
the iris nodules clinically significant?
What if the adult has what --They
could areonlyprone
be described
to spontaneous bleeding, with subsequent
as crazy-bad xanthelasmahyphema
(pic nextand slide) and: glaucoma
secondary
No other issues whatsoever?--TheyAdult-onset
are in the DDxxanthogranuloma
as a ‘masquerade syndrome’ in peds uveitis
Recently diagnosed asthma? --If enough nodulesasthma
Adult-onset are present, heterochromia iridis will result
(No question yet—advance towith periocular xanthogranuloma
the pic)
The ‘xanthelasma’ are ulcerated? Necrobiotic xanthogranuloma
Proptosis and/or terrible systemic symptoms are present? Erdheim-Chester dz
Retina
57

58

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
(pic nextand slide), and: glaucoma
secondary
as a ‘masquerade syndrome’ inGive peds
theuveitis
diagnosis
Adult-onset are present,
withheterochromia iridis will result
periocular xanthogranuloma
Retina
59

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
Retina
60

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
withheterochromia iridisDitto
will result
Retina
61

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
Retina
62

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
RPE Ditto
What is the natural history of JXG?
Retina
63

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
Retina
64
Necrobiotic xanthogranuloma
65

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
Proptosis and/or terrible systemic symptoms are present? Erdheim-Chester dzLast one
Retina
66

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
Retina
67
Erdheim-Chester disease
68

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
No other issues whatsoever? --TheyAdult-onset
Collectively, these conditions--If enough nodules are present, heterochromia iridis will result
Recently diagnosed asthma? Adult-onset asthma with periocular xanthogranuloma
are known as the…
The ‘xanthelasma’RPEare ulcerated? Necrobiotic xanthogranuloma
Adult xanthogranulomas What is the natural history of JXG?
Retina
69

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking ofChoroid
could are
onlyprone
be described
secondary
are known as the…
Retina
70

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
In three words, what sort of condition are the AXGs?
Speaking
They ofChoroid
foamy macrophages
are nonneoplastic histiocytic part deaux
In whatproliferations
three ways aredeaux…
could are
onlyprone
be described
secondary
are known as the…
Retina
71

In three words,
AsBrushfield
orangishspots:
skin papules
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
are nonneoplastic histiocytic part deaux
In whatproliferations
three ways aredeaux…
could are
onlyprone
be described
secondary
are known as the…
Retina
72

In three words,
‘Nonneoplastic AsBrushfield
orangishspots:
skin papulesassociation
with iris nodules, thehistiocytic
pt in 4) proliferations’…Why
question was a Strong does that sound so familiar?
with Down syndrome; 15% of non-Down pop.
Because that’s the phrase
5) Iriswe used to describe/define
mammillations: Tiny, numerous.JXG Same color as iris. Weak association with NF1,
Adult with bilateral upper-lid At yellow
Nevus what lesions?
age
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
are nonneoplastic histiocytic part
In what three deaux deaux…
proliferations
ways are the iris nodules clinically significant?
could are
onlyprone
be described
secondary
are known as the…
Retina
73

In three words,
‘Nonneoplastic AsBrushfield
orangishspots:
skin papulesassociation
question was a Strong does that sound so familiar?
Because that’s the phrase
5) Iriswe used to describe/define
mammillations: Tiny, numerous.JXG Same color as iris. Weak association with NF1,
Nevus what lesions?
age
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
secondary
are known as the…
Retina
74

This implies that JXG is somehow related
1) Juvenile to the AXGs.
xanthogranuloma Is Nonneoplastic
(JXG): that the case?
histiocytic proliferation. <2 years old.
Indeed it is +/- skin papules. Iris nodules bleedhyphemaincreased IOPglaucoma. Self-limited;
In three words,
What is the nature of this relationship?
Speaking
They of foamy
Iris/Ciliary Body
(JXG and macrophages
the AXGs) together part deaux…
comprise
bleedhyphemaincreased the non-Langerhans
IOPglaucoma. Locally cell histiocytoses
invasivedeath. Tx: Enucleate.
‘Nonneoplastic As orangish skin papules
Brushfield
question a Strong does
spots:
was that sound
association so familiar?
Because that’s the phrase we used to describe/define
5) Iris mammillations: Tiny, numerous. Same JXGcolor as iris. Weak association with NF1,
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
secondary
are known as the…
Retina
75

In three words,
Speaking
They of foamy
Iris/Ciliary Body
comprise
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
secondary
are known as the…
Retina
76

In three words,
Speaking
They of foamy
Iris/Ciliary Body
comprise
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
secondary
are known as the…
Retina
77

This implies that JXG is somehow
1) Juvenilerelated to the AXGs.
xanthogranuloma (JXG):Is that the case?
Nonneoplastic histiocytic proliferation. <2 years old.
In three words,
Speaking
(JXG of foamy
Iris/Ciliary Body
They and macrophages
How doescomprise
JXG usually thepresent?
non-Langerhans
IOPglaucoma. cell
Locally
(Hint: It’s not histiocytoses
invasivedeath.
ophthalmic) Tx: Enucleate.
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
secondary
are known as the…
Retina
78

In three words,
Speaking
They of foamy
Iris/Ciliary Body
comprise
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
(pi Non-Langerhans
as crazy-bad xanthelasmahyphema cell histiocytoses
Collectively, these conditions
are known as the…
Adult xanthogranulomas
Collectively, theseRPE
conditionsWhat is the natural history of JXG?
are known as the… It is self-limited, usually resolving by age 5 years
Juvenile xanthogranuloma JXG
Retina
No question—summary slide, advance when ready
79

In three words,
Speaking
They of foamy
Iris/Ciliary Body
comprise
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
(pi Non-Langerhans
are known as the…
Retina Do the AXGs have Touton giant cells like their juvenile cousin?
Indeed they do
80

In three words,
Speaking
They of foamy
Iris/Ciliary Body
comprise
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
(pi Non-Langerhans
are known as the…
Indeed they do
81

That there is something called a non-Langerhans cell histiocytosis
This impliesimplies
that JXG is Langerhans
that somehow related
histiocytosis
is (JXG): that
a thing. Isthe case?
there? histiocytic proliferation. <2 years old.
Indeed it is Indeed there is +/- skin papules. Iris nodules bleedhyphemaincreased IOPglaucoma. Self-limited;
In three words,
Speaking
They of foamy
Iris/Ciliary Body
comprise
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
(pi Non-Langerhans
are known as the…
Indeed they do
82

That there is something called a non-Langerhans cell histiocytosis
This impliesimplies
that JXG is Langerhans
that somehow related
histiocytosis
is (JXG): that
a thing. Isthe case?
there? histiocytic proliferation. <2 years old.
Indeed it is Indeed there is +/- skin papules. Iris nodules bleedhyphemaincreased IOPglaucoma. Self-limited;
In three words,
Speaking
They of foamy
Iris/Ciliary Body
comprise
Brushfield
spots:
was that sound
Xanthelsasma The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking
They ofChoroid
foamy macrophages
proliferations
could are
onlyprone
be described
(pi Non-Langerhans
are known as the…
Indeed they do
83

In three words,
2) part
is a…nonneoplastic three… histiocytic
with iris nodules, the pt
Howin question
does JXGwas a present? (Hint: It’s not ophthalmic)
usually
AsBrushfield
4) orangishspots:
8 y.o. with with a superotemporal skin papules
orbital mass?
Strong association with DownClue syndrome;
1 of 2 15% of non-Down pop.
Imagingsoft tissue mass + lytic lesions?
Pic forthcoming
At what
of Ota.
Langerhans-cell histiocytosis
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Retina
84

In three words,
2) part
is a…nonneoplastic three …
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
5) Iris mammillations: Tiny, numerous. Same
Clue 1color
of 2 as iris. Weak association with NF1,
Pic forthcoming
At what
of Ota.
Langerhans-cell histiocytosis
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Retina
85

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
Langerhans-cell histiocytosis (and there it is!)
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Retina
86

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
For more on the Langerhans (and non-Langerhans)
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
histiocytoses,
When JXG
The iris
presencesee
nodules
of areslide-set
present,
’foamy K20
are they
macrophages’ uni-, or bilateral?
Unilateral
Retina
87

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
Speaking of foamy macrophages part whatever …
What dz comes to mind if the ptand
hyphema in question
secondarywas a
glaucoma
6 y.o. boy with with unilateral
--They are leukocoria? Clue #1
in the DDx as a ‘masquerade syndrome’ in peds uveitis
No family hx for anything like this?
DFEExudative RD?
RPE What microaneurysms,
DFE alsoretinal vascular is the natural historytelangiectasias,
of JXG? dilatation?
Coats dz It is self-limited, usually resolving by age 5 years
Retina
88

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
--They are leukocoria?
No family hx for anything like this? Clue #2 heterochromia iridis will result
--If enough nodules are present,
DFEExudative RD?
of JXG? dilatation?
Retina
89

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
DFEExudative RD? Clue #3
of JXG? dilatation?
Retina
90

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
DFEExudative RD?
RPE What ismicroaneurysms,
DFE alsoRetinal vascular the natural history of JXG?
telangiectasias, dilatation? Clue last
Retina
91

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
DFEExudative RD?
telangiectasias, dilatation?
Retina
92

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
DFEExudative RD?
Where are the foamy macrophages found in Coats dz?
In the subretinal exudate (also present: cholesterol crystals)
Retina
93

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
DFEExudative RD?
Retina
94

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
DFEExudative RD?
In the subretinal exudate (also present: cholesterol
substance crystals)
Retina
95

In three words,
2) part
histiocytic
Howin question
usually
AsBrushfield
4) orangishspots:
orbital mass?
Pic forthcoming
At what
of Ota.
The
6) Irismajority
cysts:
What before
Can
arebethe age
two 1hallmarks
stromal, ofalmost
secondary. all by 2
JXG histology?
When JXG
The iris nodules
macrophages’
Unilateral
hyphema in question
secondarywas a
glaucoma
DFEExudative RD?
Retina
96

regresses by age 5. Treat inflammation and IOP. Path: Touton giant cells
2) Medulloepithelioma (aka diktyoma): Benign but locally aggressive neoplasia of
Iris/Ciliary Body bleedhyphemaincreased
What is the other name by IOPglaucoma. Locally invasivedeath.
which medulloepithelioma is known?Tx: Enucleate
3) Lisch nodules: Strong association with NF1. Lighter on dark irides; darker on light
Diktyoma
Which
Nevus specific
of Ota component of the iris/CB is involved in
medulloepithelioma?
6) Iris cysts: Can be pupillary, stromal, secondary
The nonpigmented epithelium of the ciliary body
How does it present?

As an iris mass along with one or more of the following:
Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Is it common, or rare?
Very rare
RPE
Is it benign, or malignant?
It is benign, but very aggressive locally
Retina How is it managed?

Enucleation is usually required
97

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

98

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

99

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

100

Diktyoma
Which
Nevus specific
medulloepithelioma?
What extremelyHow important

does itfunction
present?does the nonpigmented epi of the CB perform?
It is responsibleAsforanthe
iriscreation of aqueous
mass along with onehumor
or more of the following:
Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

101

Diktyoma
Which
Nevus specific
medulloepithelioma?

does itfunction
mass along withtwoonehumor
words
Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

102

Diktyoma
Which
Nevus specific
medulloepithelioma?

does itfunction
mass along with onehumor
Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

103

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

104

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --
--
--Sectoral cataract
Very rare
RPE

105
Medulloepithelioma/diktyoma
106

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --
--
--Sectoral cataract
Very rare
RPE

107

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

108

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

109

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

110

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE
Is it a benign, or malignant lesion?

111

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE
It can have features of both. Either way, it is very locally aggressive.

112
Medulloepithelioma/diktyoma
113

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE
Is a tendency toismetastasize one of its ‘malignant features’?

Retina How it managed?
No, this lesion rarely metastasizes; it does its damage locally
114

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE
Is a tendency toismetastasize one of its ‘malignant features’?

Retina How it managed?
No, this lesion rarely metastasizes; it does its damage locally
115

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE
How is it managed? How aggressive is ‘very aggressive’?
Retina Aggressive enough to result in death
116

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE
How aggressive is ‘very aggressive’?
Retina How is it managed? Aggressive enough to result in death
117

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

118

Diktyoma
Which
Nevus specific
medulloepithelioma?

Choroid --Glaucoma
--Hyphema
--Sectoral cataract
Very rare
RPE

119

Iris/Ciliary Body bleedhyphemaincreased IOPglaucoma. Locally invasivedeath. Tx: Enucleate
4) Brushfield spots Strong association with Down syndrome; 15% of non-Down pop.
Lisch nodules are 5) Iris mammillations:
most Tiny, numerous.
strongly associated with whatSame color as condition?
congenital iris. Weak association with NF1,
NF1 Nevus of Ota
Is it associated with NF2?
Yes, but the relationship is far weaker—Lisch nodules occur in NF2, but so
sporadically that they are not expected
Choroid
What is the prevalence of Lisch nodules in NF1?
The rule-of-thumb is that Lisch nodule prevalence equals the age of the
patient times 10. Thus, 50% of 5 year olds will have them, 60% of 6 year olds,
etc. At age 10 and beyond, essentially 100% of NF1 patients have Lisch
nodules.
RPE
Are Lisch nodules clinically significant?
No; their only significance is as a diagnostic marker for NF1
Retina
120

NF1 Nevus of Ota
Is it associated with NF2?
Choroid
nodules.
RPE
Retina
121

NF1 Nevus of Ota
In this context, Is
what does NF1with
it associated stand for?
NF2?
NeurofibromatosisYes,type 1 relationship is far weaker—Lisch nodules occur in NF2, but so
but the
What is the eponymous name for NF1?
Choroid
von Recklinghausen’s
What is disease
the prevalence of Lisch nodules in NF1?
In a word, whatpatient
sort oftimes
condition is it? 50% of 5 year olds will have them, 60% of 6 year olds,
10. Thus,
A phakomatosis etc. At age 10 and beyond, essentially 100% of NF1 patients have Lisch
nodules.
RPE
Retina
122

NF1 Nevus of Ota
In this context, Is
what does NF1with
NF2?
but the
Choroid
What is disease
sort oftimes
10. Thus,
nodules.
RPE
Retina
123

NF1 Nevus of Ota
In this context, Is
what does NF1with
NF2?
but the
Choroid
What is disease
sort oftimes
10. Thus,
nodules.
RPE
Retina
124

NF1 Nevus of Ota
In this context, Is
what does NF1with
NF2?
but the
Choroid
What is disease
sort oftimes
10. Thus,
nodules.
RPE
Retina
125

NF1 Nevus of Ota
In this context, Is
what does NF1with
NF2?
but the
Choroid
What is disease
sort oftimes
10. Thus,
nodules.
RPE
Retina
126

NF1 Nevus of Ota
In this context, Is
what does NF1with
NF2?
but the
Choroid
What is disease
sort oftimes
10. Thus,
nodules.
RPE
Retina
127

NF1 Nevus of Ota
In this context, Is
what does NF1with
it associated stand
NF2?for?
but the
Choroid
What is disease
Phakomatoses
The rule-of-thumb are known
is that also asprevalence
Lisch nodule what sort of syndrome?
equals the age of the
sort Neurocutaneous
oftimes
condition is it?
10. Thus, 50%syndromes
of 5 year olds will have them, 60% of 6 year olds,
In general terms, how do phakomatoses present?
nodules.
With
RPE multiple lesions in two or more organ systems,
including
Are Lisch the clinically
nodules skin and significant?
CNS
Retina
128

NF1 Nevus of Ota
In this context, Is
what does NF1with
it associated stand
NF2?for?
but the
Choroid
What is disease
Phakomatoses
sort Neurocutaneous
oftimes
condition is it?
nodules.
With
including
CNS
Retina
129

NF1 Nevus of Ota
In this context, Is
what does NF1with
it associated stand
NF2?for?
but the
Choroid
What is disease
Phakomatoses
sort Neurocutaneous
oftimes
condition is it?
nodules.
With
including
CNS
Retina
130

NF1 Nevus of Ota
In this context, Is
what does NF1with
it associated stand
NF2?for?
but the
Choroid
What is disease
Phakomatoses
sort Neurocutaneous
oftimes
condition is it?
nodules.
With
including
CNS
Retina
131

NF1 Nevus of Ota
Are Lisch nodules associated with NF2?
Choroid
nodules.
RPE
Retina
132

NF1 Nevus of Ota
Choroid
nodules.
RPE
Retina
133

NF1 Nevus of Ota
Choroid
nodules.
RPE
Retina
134

NF1 Nevus of Ota
Choroid
nodules.
RPE
Retina
135

NF1 Nevus of Ota
Choroid
nodules.
RPE
Retina
136

NF1 Nevus of Ota
Choroid
nodules.
RPE
Retina
137

Most NF1 lesions are associated
nonpigmented with one ofofCB.
epithelium two cell types.
Presents: What
Iris mass beforeareagethey?
10 years. Can
Iris/Ciliary Body Melanocytes and neuroglial
bleedhyphemaincreased cells Locally invasivedeath. Tx: Enucleate
IOPglaucoma.
NF1 Nevus of Ota
Choroid
nodules.
RPE
Retina
138

Presents: What
10 years. Can
IOPglaucoma.
NF1 Nevus of Ota
Choroid
nodules.
RPE
Retina
139

Presents: What
10 years. Can
IOPglaucoma.
NF1 Nevus of Ota
Melanocytic lesions Neuroglial lesions
--? Are Lisch nodules associatedGive with four
NF2?classic --?
--? examples of each: --?
Yes, but the relationship is far weaker—Lisch
(YMMV of course)nodules occur in NF2, but so
--? sporadically that they are not expected --?
--? --?
Choroid
nodules.
RPE
Retina
140

Presents: What
10 years. Can
IOPglaucoma.
NF1 Nevus of Ota
--CaféAre
au lait spots
Lisch nodules associatedGivewith four
NF2?classic --Nodular neurofibromas
--Axillary/inguinal freckles examples of each:
(YMMV of course) nodules--Plexiform neurofibromas
occur in NF2, but so
--Lischsporadically
nodules that they are not expected --Optic glioma
--Choroidal lesions --Prominent corneal nerves
Choroid
nodules.
RPE
Retina
141

Presents: What
10 years. Can
IOPglaucoma.
NF1 Nevus of Ota
--CaféAre
au lait spots
Lisch nodules associatedGive with four
(YMMV of course) nodules--Plexiform
occur in NF2,neurofibromas
but so
--Lischsporadically
Choroid
In what fundamental way do these
The rule-of-thumb lesions
is that Lischdiffer (other
nodule than the equals
prevalence cell type
theofage
origin, duh)?
of the
The melanocytic lesions
patient times are
10. of no clinical
Thus, 50% ofsignificance
5 year olds beyond
will haveestablishing
them, 60%the of 6diagnosis,
year olds,
whereas the neuroglial
etc. At age 10 and beyond, essentially 100% of NF1 patients have Lisch morbidity
lesions are associated with significant ocular and/or systemic
nodules.
RPE
Retina
142

Presents: What
10 years. Can
IOPglaucoma.
NF1 Nevus of Ota
--CaféAre au lait
Lischspots
nodules associatedGive with four
--Lischsporadically
Choroid
prevalence cell typethe
of age
origin, duh)?
of the
The melanocytic patient
m’cytic v N-G lesions
timesare
10.of no clinical
5 year oldsbeyond establishing
will have them, 60%the of 6diagnosis,
year olds,
etc. age 10 and beyond, essentially 100% of NF1 patients have Lisch morbidity
Atv N-G
m’cytic lesions are associated with significant ocular and/or systemic
nodules.
RPE
Retina
143

Presents: What
10 years. Can
IOPglaucoma.
NF1 Nevus of Ota
--CaféAre
au lait spots
Lisch nodules associatedGive with four
--Lischsporadically
Choroid
of age
origin, duh)?
of the
patient timesare
10.of no clinical
5 year oldsbeyond establishing
will have them, 60%the of 6diagnosis,
year olds,
nodules.
RPE
Retina
144

Presents: What
10 years. Can
IOPglaucoma.
NF1 Nevus of Ota
--CaféAre
au lait spots
Lisch nodules associatedGivewith four
--Lisch nodules
sporadically that they are not expected --Optic glioma
Choroid
is that differ
Lisch (other
of age
origin, duh)?
of the
patient times are of no clinical
10. Thus, 50% ofsignificance
5 year olds beyond
will haveestablishing
them, 60% the of 6diagnosis,
year olds,
nodules.
RPE
Retina
(No question—proceed when ready)
145

NF1 Nevus of Ota
Are Are Lisch nodules
it associated dark, or light?
with NF2?
Yes,Itbut
depends. Lisch nodules
the relationship is far are lighter thannodules
weaker—Lisch the restoccur
of theiniris when
NF2, but so
the iris in question is dark, but
sporadically that they are not expected darker than the rest when the iris is
light.
Choroid
nodules.
RPE
Retina
146

NF1 Nevus of Ota
with NF2?
It depends. Lisch nodules are lighter thannodules
the restoccur
of theiniris when
lighter v
Yes, but the relationship is far weaker—Lisch darker

NF2, but so
the iris in question is dark, but darkerdarker than the rest when the iris is
lighter v

light.
Choroid
nodules.
RPE
Retina
147

NF1 Nevus of Ota
with NF2?
Yes,Itbut
depends. Lisch nodules
the relationship is far are lighter thannodules
weaker—Lisch the restoccur
of theiniris when
NF2, but so
the iris in question is dark, but
sporadically that they are not expected darker than the rest when the iris is
light.
Choroid
nodules.
RPE
Retina
148
Lisch nodules
149

Brushfield spots
Nevusare most strongly associated with what congenital condition?
of Ota
Down syndrome
What is the prevalence of Brushfield spots in the Down population?

At least 90%
Choroid
What is the clinical significance of Brushfield spots?
They have none
When a clinically identical iris finding occurs in a non-Down individual, what are
the lesions called?
Wolfflin nodules
RPE
Retina
150

Brushfield spots
of Ota
Down syndrome

At least 90%
Choroid
They have none
the lesions called?
Wolfflin nodules
RPE
Retina
151
Brushfield spots
152

Brushfield spots
of Ota
Down syndrome

At least 90%
Choroid
They have none
the lesions called?
Wolfflin nodules
RPE
Retina
153

Brushfield spots
of Ota
Down syndrome

At least 90%
Choroid
They have none
the lesions called?
Wolfflin nodules
RPE
Retina
154

Brushfield spots
of Ota
Down syndrome

At least 90%
Choroid
They have none
the lesions called?
Wolfflin nodules
RPE
Retina
155

Brushfield spots
of Ota
Down syndrome

At least 90%
Choroid
They have none
the lesions called?
Wolfflin nodules
RPE
Retina
156

Brushfield spots
of Ota
Down syndrome

At least 90%
Choroid
They have none
the lesions called?
Wolfflin nodules
RPE
Retina
157

Brushfield spots
of Ota
Down syndrome

At least 90%
Choroid
They have none
the lesions called?
Wolfflin nodules
RPE
Retina
158
Wolfflin nodules
159

4) Brushfield spots: Strong association with Down syndrome
Nevus of Ota
6) IrisAren’t
Mammillations? cysts:those
Can bea pupillary, stromal, secondary
CNS thingamajig?
You’re thinking of the mammillary bodies , paired structures that are
part of the limbic system
OK, then what are iris mammillations?

Choroid
Tiny pigmented nodules which, when present, are found in vast numbers
diffusely scattered across the iris surface
Are they unilateral, or bilateral?

Usually unilateral, but bilaterality occurs frequently enough that it can’t be
used to rule them out
RPE
Are they associated with NF1?
Yes (albeit not nearly as strongly as Lisch nodules)
Retina
160

Nevus of Ota
6) IrisAren’t
CNS thingamajig?
You’re thinking of the mammillary
two words bodies , paired structures that are

Choroid

RPE
Retina
161

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
Retina
162

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
Retina
163

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid
Tiny pigmented iris nodules which, when present, are found in vast
numbers diffusely scattered across the iris surface

RPE
Retina
164
Iris mammilations
165

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
Retina
166

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
Retina
167

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
With what phakomatosis are they associated?
NF1 (albeit not nearly as strongly as Lisch nodules)
Retina
168

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
Retina
169

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid
‘Tiny pigmented iris nodules associated with NF1’--given this, how on earth are you
supposed to differentiate betweenorLisch
Are they unilateral, nodules and mammillations?
bilateral?
By appearance. Iris mammillations
Usually unilateral, butare always the
bilaterality same
occurs color as the
frequently rest that
enough of the iris. be
it can’t
In contrast, and as stated
used to rule previously,
them out Lisch nodules are lighter when the iris is dark,
but darker whenRPEthe iris is light.
Retina
170

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid
‘Tiny pigmented iris nodules associated with NF1’--given this, how on earth are you
supposed to differentiate betweenorLisch
Are they unilateral, nodules and mammillations?
bilateral?
By appearance. Iris mammillations
Usually unilateral, butare always the
bilaterality same
occurs color as the
frequently rest that
enough of the iris. be
it can’t
In contrast andused
as stated
to rulepreviously,
them out Lisch nodules are lighter when the iris is dark,
but darker whenRPEthe iris is light.
Retina
171

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
In addition to NF1, iris mammillations have another important association.
What isRetina
it?
Oculodermal melanocytosis, aka nevus of Ota
172

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
What isRetina
it?
three words
173

Nevus of Ota
6) IrisAren’t
CNS thingamajig?

Choroid

RPE
What isRetina
it?
174
Oculodermal melanocytosis (nevus of Ota)

175

Nevus of Ota
6) Iris cysts: Can be pupillary, stromal, secondary (see the Iris issues is kids slide-set)
Choroid
RPE
Retina
176

Nevus of Ota
1) ?
2) ?
Choroid 3) ? Five tumors of the choroid
4) ?
5) ?
RPE
Retina
177

Nevus of Ota
1) Nevus
2) Melanocytoma
Choroid 3) Osteoma Five tumors of the choroid
4) Isolated/focal choroidal hemangioma
5) Diffuse choroidal hemangioma
RPE
Retina
178

Nevus of Ota
1) Nevus
2) Melanocytoma
But not 6) ?
What common sort of choroidal tumor—common in adults—is absent from this list?
Choroidal tumors arising as metastases from a nonocular primary. In adults, metastasis of
RPE
solid tumors to the uveal tract is common. It almost never happens in children.
If a child does suffer an ophthalmic metastasis, where does it tend to occur?

The orbit
Retina
179

Nevus of Ota
1) Nevus
2) Melanocytoma
But not 6) Metastases
RPE

The orbit
Retina
180

Nevus of Ota
1) Nevus
2) Melanocytoma
RPE

The orbit
Retina
181

Nevus of Ota
1) Nevus
2) Melanocytoma
RPE

The orbit
Retina
182

Nevus of Ota
1) Nevus: Common. Benign Note the factoids, then proceed

2) Melanocytoma
Choroid 3) Osteoma
RPE
Retina
183

Melanocytoma is NF1.
a variant
3) Lisch nodules: Strong association with Lighterofonwhat
dark common
irides; darker on light
choroidal
4) Brushfield spots: Strong finding?
association with Down syndrome
5) Iris mammillations:ItTiny,
is anumerous.
particularSame
sort color
of choroidal nevus
as iris. Weak association with NF1,
Nevus of Ota
6) Iris cysts: Can be pupillary, stromal,
From what secondary
structure does(see the Iris issues
it commonly is kids slide-set)
arise?
The optic disc
1) Nevus: Common. Benign
Is it unilateral, or bilateral?
2) Melanocytoma
It is virtually always unilateral
Choroid 3) Osteoma
Is there a racial predilection?
No
Does it affect visual acuity?

RPE Only in a minority of cases. But in almost all cases,
it does affect visual fields .
Does melanocytoma have the potential to undergo

malignant transformation?
Retina Yes
184

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
185

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
186

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
187
Melanocytoma
188

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
Does it have a unilateral/bilateral predilection?
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
189

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Yes, it is virtually always unilateral
Choroid 3) Osteoma
No


Retina Yes
190

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
191

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
192

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
193

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
194

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No

two words

Retina Yes
195

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No

it does affect visual fields.

Retina Yes
196

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
197

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes
198

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes what percent of cases will transform?
Approximately
1-2
199

a variant
dark common
choroidal
is anumerous.
particularSame
sort color
of choroidal nevus
Nevus of Ota
From what secondary
arise?
The optic disc
2) Melanocytoma
Choroid 3) Osteoma
No


Retina Yes what percent of cases will transform?
Approximately
1-2
200
In a word, what is a choroidal osteoma composed of?
Bone
Is it common or rare?
Very rare 1) Juvenile xanthogranuloma (JXG): Nonneoplastic histiocytic proliferation. <2 years old.
Is it benign or malignant?
Benign 2) Medulloepithelioma (aka diktyoma): Benign but locally aggressive neoplasia of
Iris/Ciliary Body
Does there a gender 3)
bleedhyphemaincreased IOPglaucoma. Locally invasivedeath. Tx: Enucleate
predilection?
Lisch nodules: Strong association with NF1. Lighter on dark irides; darker on light
Yes, it is more common in females
Is it more typically found
Nevus in of
pre-teens,
Ota or teens?
Teens 6) Iris cysts: Can be pupillary, stromal, secondary (see the Iris issues is kids slide-set)
If significant vision loss occurs, what osteoma complication is usually the culprit?
Choroidal neovascular 1) membrane
Nevus: Common. Benign
2) Melanocytoma: Usually juxtapapillary. Malignant transformation extremely rare
Choroid 3) Osteoma
RPE
Retina
201
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
Osteoma
203
Osteoma: FP, and b-scan demonstrating ‘shadowing’

buzzword describing a b-scan
finding illustrated above
204
Osteoma: FP, and b-scan demonstrating ‘shadowing’

205
Osteoma: Another example

Osteomas (same pt, different cuts).

Note how bright the lesions are
207
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
208
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
209
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
210
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
211
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
212
Bone
Iris/Ciliary Body
predilection?
4) Brushfield
M v F spots: Strong association with Down syndrome
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
213
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
214
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
215
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
216
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
217
Bone
Iris/Ciliary Body
predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
218
Osteoma with CNVM in a 13 y.o. female

219
Bone
Is it benignare
True osteomas or indeed
malignant?
regresses by age secondary
rare; however, 5. Treat inflammation and IOP.
osteoma-like Path: Touton
lesions can begiant cellsin
found
eyes with what sorts of history?
Eyes that have suffered severe
Iris/Ciliary Body chronic inflammationIOPglaucoma.
bleedhyphemaincreased (especially if they become
Locally invasivedeath. Tx: Enucleate
Does
phthisical) there a gender predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
220
Bone
Is it benignare
True osteomas or indeed
malignant?
regresses by age secondary
rare; however, 5. Treat inflammation and IOP.
osteoma-like Path: Touton
lesions can begiant cellsin
found
eyes with what sorts of history?
Eyes that have suffered severe
Iris/Ciliary Body chronic inflammationIOPglaucoma.
bleedhyphemaincreased (especially if they become
Does
phthisical) there a gender predilection?
Nevus in of
pre-teens,
Ota or teens?
Choroid 3) Osteoma
RPE
Retina
221

By what other name is this lesion known?
1) Juvenile xanthogranuloma
Circumscribed (JXG): Nonneoplastic histiocytic proliferation. <2 years old.
choroidal hemangioma
Is it common, or rare?(aka diktyoma): Benign but locally aggressive neoplasia of
2) Medulloepithelioma
Rare
3) Lisch
Is nodules:with
it associated Strong associationcondition,
a systemic with NF1. Lighter
ie, is iton dark irides; darker on light
syndromic?
No
Nevus of Ota
As a reddish-orange mass in the macula
What is its characteristic
2) Melanocytoma: pattern on a-scan
Usually juxtapapillary. Malignant transformation extremely rare
Choroid ultrasonography?
3) Osteoma: Benign bony tumor, most common in teen years, females. Risk of CNVM
It4)isIsolated/focal
one of ‘highchoroidal
internal reflectivity’
hemangioma
RPE
Retina
222

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
223

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
224

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
225

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
226

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
227

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
228

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
229
Circumscribed choroidal hemangioma

230

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
231

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
hemangioma
RPE
Retina
232
Circumscribed choroidal hemangioma: High internal reflectivity on a-scan

233

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
6) Irisreflectivity’--what
‘High internal cysts: Can be pupillary,
otherstromal, secondary
choroidal (see
lesion’s the Iris issues is kids slide-set)
a-scan
is described the same way?
Choroidal nevus
internalhemangioma
reflectivity’
RPE
Retina
234

Rare
3) Lisch
Is nodules:with
syndromic?
No
Nevus of Ota
6) Irisreflectivity’--what
‘High internal cysts: Can be pupillary,
otherstromal, secondary
choroidal (see
lesion’s the Iris issues is kids slide-set)
a-scan
is described the same way?
Choroidal nevus
internalhemangioma
reflectivity’
RPE
Retina
235
Intraocular Tumors
With what condition of Childhood
is the diffuse choroidal hemangioma associated?
Sturge-Weber syndrome (SWS)
Diffuse choroidal hemangioma is present in what percent of SWS?
About 50% regresses by age 5. Treat inflammation and IOP. Path: Touton giant cells
What does the fundus look like inepithelium
nonpigmented an eye with a diffuse
of CB. choroidal
Presents: Iris mass hemangioma?
before age 10 years. Can
Iris/Ciliary Bodyis a very
The coloration red--much more so than
bleedhyphemaincreased an unaffected
IOPglaucoma. fundus
What food-related term is used to describe the fundus appearance in SWS?
‘Tomato catsup fundus’
Nevus of Ota
Can the choroidal hemangioma be present bilaterally?
Yes, but it’s uncommon
Does the choroidal hemangioma haveUsually
2) Melanocytoma: malignant potential?
juxtapapillary. Malignant transformation extremely rare
No Choroid 3) Osteoma: Benign bony tumor, most common in teen years, females. Risk of CNVM
4) Isolated/focal choroidal hemangioma: Very rare. Characteristic a-scan pattern
RPE
Retina
236
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
237
Intraocular Tumors
About
In a word, what50%
sort of condition is SWS?
A phakomatosis 2) Medulloepithelioma (aka diktyoma): Benign but locally aggressive neoplasia of
nonpigmented an eye with
of CB.a diffuse choroidal
Iris/Ciliary
What is The Bodyis a very
coloration
the noneponymous red--much
for SWS?more so than
name an unaffected
Encephalotrigeminal angiomatosis (you might also
What food-related
see encephalofacial term is used angiomatosis)
or cerebrofacial to describe the fundus appearance in SWS?
‘Tomato catsup fundus’Nevus of Ota
RPE
Retina
238
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
RPE
Retina
239
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
RPE
Retina
240
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
RPE
Retina
241
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
What is the hallmark skin finding in SWS?
Can the
The port-wine stain choroidal hemangioma be present bilaterally?
In one word, what sort of lesion1)isNevus:
the port-wine
Common.stain?
Benign
An angioma Does the choroidal hemangioma
2) Melanocytoma: haveUsually
malignant potential?
When does it present? 5) Diffuse choroidal hemangioma
At birth
What is the typical pattern of distribution?

It comports to the distribution of one or more divisions of CN5
RPE
Does it always present in this manner?
No. Some cases will cross the midline of the face
Retina
All infants with SWS have a port-wine stain. Do all infants
with a port-wine stain have SWS?
No
242
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
243
Sturge-Weber: Port-wine stain

244
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
245
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
Encephalotrigeminal angioma tosis (you might
4) Brushfield alsoassociation with Down syndrome
What food-related term is used tospots: Strong
describe the fundus appearance in SWS?
see encephalofacial or cerebrofacial
‘Tomato catsup fundus’ angioma
5) Iris mammillations: Tiny,
tosis)numerous. Same color as iris. Weak association with NF1,
Nevus of Ota
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
246
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
247
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
248
Sturge-Weber: Port-wine stain

249
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
250
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
251
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
252
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
No, some cases will cross the midline of the face
Retina
No
253
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
254
Intraocular Tumors
About
In a word, what50%
Iris/Ciliary
coloration
name an unaffected
What food-related
Can the
the port-wine
Common.stain?
Benign
At birth

RPE
Retina
No
255
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
256
Intraocular Tumors
About half regresses by age 5. Treat inflammation and IOP. Path: Touton giant cells
of CB. choroidal
Nevus of Ota
RPE
Retina
257
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
258
Intraocular Tumors
of CB. choroidal
The coloration red, much more so than
Nevus of Ota
RPE
Retina
259
Sturge-Weber: Tomato catsup fundus OD

260
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
261
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
262
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
263
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
264
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
265
Intraocular Tumors
of CB. choroidal
Nevus of Ota
RPE
Retina
266

Nevus of Ota

Choroid 3) Osteoma: Benign bony tumor, most common in teen years, females. Risk of CNVM
5) Diffuse choroidal hemangioma: Unilateral. Found in Sturge-Weber syndrome
RPE 1) ?
Retina
267

Nevus of Ota

RPE 1) Congenital hypertrophy of the RPE (CHRPE)
Retina
268

Nevus of Ota
What is the clinical appearance of CHRPE?

Flat, mainly1)black lesion(s)
Nevus: Common. ranging
Benign in size from a 1 mm up to ~10
Choroid 3) Osteoma:
Is it common, or rare? Benign bony tumor, most common in teen years, females. Risk of CNVM
Common 4) Isolated/focal choroidal hemangioma: Very rare. Characteristic a-scan pattern
Is it a hamartoma or a choristoma?
It is neither
Retina
269

Nevus of Ota

Choroid 3) Osteoma:
It is neither
Retina
270
CHRPE
271

Nevus of Ota

Choroid 3) Osteoma:
It is neither
Retina
272

Nevus of Ota

Choroid 3) Osteoma:
It is neither
Retina
273

Nevus of Ota

Choroid 3) Osteoma:
It is neither
Retina
274

Nevus of Ota

Choroid 3) Osteoma:
It is neither
Retina
275

Nevus of Ota

CHRPE is characterized according to its presentation. In what two ways does it present?
--Solitary CHRPE
--Multifocal or Grouped CHRPE: Large lesion(s) surrounded by a few smaller ones
Retina
276

Nevus of Ota

--Solitary CHRPE
Retina
277

Nevus of Ota

--Solitary CHRPE
Retina
278
Solitary Grouped
CHRPE
279

Nevus of Ota

--Solitary CHRPE
Retina
What descriptive name is used with regard to the appearance of Multifocal/Grouped CHRPE?
‘Bear tracks’
280

Nevus of Ota

--Solitary CHRPE
Retina
What descriptive name is used with regard to the appearance of Multifocal/Grouped CHRPE?
‘Bear tracks’
281
CHRPE: Bear tracks

282

Nevus of Ota
6) Iriswith
A CHRPE-like lesion is associated cysts: Can be pupillary,
a potentially fatal stromal,
inheritedsecondary (seeWhat
syndrome. the Irisisissues is kids slide-set)
the name
(both eponymous and noneponymous) of this syndrome?
Familial adenomatous polyposis, aka Gardner syndrome
What characteristics of a CHRPE-like presentation increase the likelihood that it is a component
Choroid
of Gardner syndrome?
--If it is bilateral (regular CHRPE is almost
5) Diffuse always
choroidal unilateral )Unilateral. Found in Sturge-Weber syndrome
hemangioma:
--If the lesions are scattered throughout multiple sectors of the eyes (ie, not ‘grouped’)
--If the shape of the lesions is pisciform
--Solitary CHRPE
Retina
283

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--Solitary CHRPE
Retina
284

TakeNevus of Ota
careful note of the modifier ‘like’ here, because while
A CHRPE-like lesion is associated
CHRPE and with the lesions fatal
a potentially associated
inheritedwith Gardner
syndrome. syndrome
What is the
name (both eponymous andarenoneponymous) of this syndrome?
ophthalmoscopically similar, they are not the same!
Choroid
What characteristics of a CHRPE-like presentation
3) Osteoma: increase
Benign bony the likelihood
tumor, most common in that
teen it is a females.
years, componentRisk of CNVM
of Gardner syndrome? 4) Isolated/focal choroidal hemangioma: Very rare. Characteristic a-scan pattern
5) Diffuse
--If it is bilateral (regular CHRPE choroidal
is almost always hemangioma:
unilateral )Unilateral. Found in Sturge-Weber syndrome
--Solitary CHRPE
Retina
285

Nevus of Ota
6) Iriswith
the name
Choroid
-- 5) Diffuse choroidal hemangioma: Unilateral. Found in Sturge-Weber syndrome
--
--
--Solitary CHRPE
Retina
286

Nevus of Ota
6) Iriswith
the name
Choroid
--If it is bilateral
bi- v unilateral (regular CHRPE is almost
5) Diffuse always
choroidal unilateral
hemangioma:
bi- v unilateral )Unilateral. Found in Sturge-Weber syndrome
--
--
--Solitary CHRPE
Retina
287

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--
--
--Solitary CHRPE
Retina
288
CHRPE-like lesions of Gardner syndrome: Bilateral presentation

289

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--If the lesions are scattered throughout multipledistribution
sectors patternof the eyes (ie, not ‘grouped’)
--
--Solitary CHRPE
Retina
290

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--
--Solitary CHRPE
Retina
291
CHRPE-like lesions of Gardner syndrome: Scattered distribution

292

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--Solitary CHRPE
Retina
293

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--Solitary CHRPE
Retina
294

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--If the shape of the lesions is pisciform What does pisciform mean?
‘Fish-shaped’
--Solitary CHRPE
Retina
295

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--If the shape of the lesions is pisciform What does pisciform mean?
It means ‘fish-shaped’
--Solitary CHRPE
Retina
296
CHRPE-like lesions of Gardner syndrome: Pisciform shape

297

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
The tails of these fish-shaped lesions have two telltale (tell-
tail?) characteristics--what are they?
-- CHRPE is characterized according to its presentation. In what two ways does it present?
-- --Solitary CHRPE
Retina
298

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
RPE
1) Congenital hypertrophy of the RPE (CHRPE)
--They areCHRPE
hypopigmented
hypo- vs hyperpigmented
is characterized according to its presentation. In what two ways does it present?
--They point towards
--Solitary CHRPE the optic nerve
location in eye head

Retina
299

Nevus of Ota
6) Iriswith
the name
Choroid
5) Diffuse always
hemangioma:
--They areCHRPE
hypopigmented
is characterized according to its presentation. In what two ways does it present?
--They point towards the optic nerve head
--Solitary CHRPE
Retina
300
CHRPE-like lesions of Gardner syndrome: Hypopigmented tail pointing toward ONH

301

Nevus of Ota
6) Iriswith
the name
What is theofmost 2) Melanocytoma:
clinically important Usually
(and juxtapapillary.
ominous) Malignant transformation
component extremely rare
What characteristics a CHRPE-like presentation increase the likelihood to Gardner
that syndrome?
it is a component
of GardnerPts
develop thousands of colonic polyps, a significant number of which are malignant
syndrome? 4) Isolated/focal choroidal hemangioma: Very rare. Characteristic a-scan pattern
5) Diffuse always
hemangioma:
Other
--If the lesions than
are the colonic
scattered and RPE
throughout lesions,
multiple what are
sectors theeyes
of the findings in Gardner
(ie, not syndrome?
‘grouped’)
--Benign
--If the shape of thetumors
lesionsofis the skin
pisciform
--Benign tumors of bone
--Dental anomalies 1) Congenital hypertrophy of the RPE (CHRPE)
RPE
--Solitary CHRPE
Retina
302

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse always
hemangioma:
Other
are the colonic
scattered and RPE
throughout lesions,
multiple what are
sectors theeyes
(ie, not syndrome?
‘grouped’)
--Benign
pisciform
RPE
--Solitary CHRPE
Retina
303
Gardner syndrome: Colonic polyps

304

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse
What always
choroidal
proportion unilateral
hemangioma: )Unilateral.
of untreated Found
Gardner in Sturge-Weber
syndrome pts willsyndrome
develop
Other
--If the lesions arethan colonic throughout
scattered and RPE findings,
multiplewhat are of
sectors thethe
common stigmata
eyes (ie, of Gardner syndrome?
not ‘grouped’)
--Benign colon cancer?
pisciform
--Benign tumors of bone All of them
RPE By what age will this occur?
Age 40, maybe a little later
--Solitary CHRPE
Retina
305

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse
What always
choroidal
of untreated Found
develop
Other
multiplewhat are of
sectors thethe
common stigmata
not ‘grouped’)
pisciform
--Solitary CHRPE
Retina
306

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse
What always
choroidal
of untreated Found
develop
Other
multiplewhat are of
sectors thethe
common stigmata
not ‘grouped’)
pisciform
--Solitary CHRPE
Retina
307

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse
What always
choroidal
of untreated Found
develop
Other
multiplewhat are of
sectors thethe
common stigmata
not ‘grouped’)
pisciform
40, maybe a little later
--Solitary CHRPE
Retina
308

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse
What always
choroidal
of untreated Found
syndrome syndrome
pts will develop
Other
multiplewhat are of
sectors thethe
common stigmata
not ‘grouped’)
pisciform What is the treatment of choice?
--Benign tumors of bone All of them Prophylactic colectomy
--Solitary CHRPE
Retina
309

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse
What always
choroidal
of untreated Found
syndrome syndrome
pts will develop
Other
multiplewhat are of
sectors thethe
common stigmata
not ‘grouped’)
pisciform What is the treatment of choice?
--Benign tumors of bone All of them Prophylactic colectomy
--Solitary CHRPE
Retina
310

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse always
hemangioma:
Other
are the colonic
scattered and RPE
throughout lesions,
multiple what are
sectors theeyes
(ie, not syndrome?
‘grouped’)
-- of the lesions is pisciform
--If the shape
--
--
--Solitary CHRPE
Retina
311

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse always
hemangioma:
Other
are the colonic
scattered and RPE
throughout lesions,
multiple what are
sectors theeyes
(ie, not syndrome?
‘grouped’)
--Benign
pisciform
RPE
--Solitary CHRPE
Retina
312

Nevus of Ota
6) Iriswith
the name
that syndrome?
it is a component
of GardnerPts
5) Diffuse always
hemangioma:
Other
are the colonic
scattered and RPE
throughout lesions,
multiple what are
sectors theeyes
(ie, not syndrome?
‘grouped’)
--Benign
pisciform
RPE
--Solitary CHRPE
Retina
313

Nevus of Ota
6) Iriswith
the name
When ‘colon cancer + ophthalmic issue’ isUsually
2) Melanocytoma: mentioned, three syndromes
juxtapapillary. should come
Malignant transformation to
extremely rare
mind. OneChoroid
is Gardner syndrome. What are the other two?
Muir-Torre syndrome and4)Peutz
Isolated/focal
Jegherschoroidal
syndrome hemangioma: Very rare. Characteristic a-scan pattern
--If it is bilateral (regular CHRPE
5) Diffuse choroidal hemangioma:)Unilateral. Found in Sturge-Weber syndrome
is almost always unilateral
--Solitary CHRPE
Retina
314

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
is Gardner syndrome. What are the other two?
Muir-Torre syndrome and4)Peutz-Jeghers
Isolated/focal choroidal
--If it is bilateral (regular CHRPE
5) Diffuse choroidal hemangioma:)Unilateral. Found in Sturge-Weber syndrome
--Solitary CHRPE
Retina
315

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
is Gardner syndrome. What is the other?
3) Osteoma:
How is
Benign bony
Muir-Torre
tumor, most
pronounced?
common in teen years, females. Risk of CNVM
Muir-Torre syndrome and 4) Isolated/focal choroidal hemangioma: Very rare. Characteristic a-scan pattern
--If it is bilateral (regular CHRPE mure (rhymes
is almost
5) Diffuse always
choroidal with ‘pure’))Unilateral.
unilateral
hemangioma: tore-ay Found in Sturge-Weber syndrome
--Solitary CHRPE
Retina
316

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
3) Osteoma:
How is
Benign bony
Muir-Torre
tumor, most
pronounced?
common in teen years, females. Risk of CNVM
--If it is bilateral (regular CHRPE mure (rhymes
is almost
5) Diffuse always
choroidal with ‘pure’))Unilateral.
unilateral
hemangioma: tore-ay Found in Sturge-Weber syndrome
--Solitary CHRPE
Retina
317

Nevus of Ota
6) Iriswith
the name
2) What
When ‘colon cancer + ophthalmic isissue’
the main
Melanocytoma: ophthalmic
isUsually
mentioned, manifestation
two syndromes
juxtapapillary. of Muir-Torre
should syndrome?
comeextremely
Malignant transformation to mind.rare
Choroid
One is Gardner
3) Multiple
syndrome. What is sebaceous
Osteoma:
How is
the bonylesions
other?
Benign
Muir-Torre
of (but
tumor, most
pronounced?
not necessarily
common in teen years,limited to)Risk
females. theofeyelids
CNVM
--If it is bilateral (regular CHRPE mure
5) Does
Diffuse (rhymes
is almost always
choroidal
Muir-Torre with ‘pure’)
unilateral
hemangioma:
present tore-AYadenomatous
with)Unilateral.
multiple Found in Sturge-Weber
polyps syndrome
of the colon
--If the lesions are scattered throughout multiple sectors
a la Gardner syndrome? of the eyes (ie, not ‘grouped’)
No; Muir-Torre is an example of a disease spectrum called Hereditary
Non-Polyposis Colorectal Cancer
--Solitary CHRPE
Retina
318

Nevus of Ota
6) Iriswith
the name
2) What
the main
isUsually
two syndromes
should syndrome?
comeextremely
Choroid
One is Gardner
3) Multiple
Osteoma:
How is
the bonylesions
other?
Benign
Muir-Torre
of (but
tumor, most
pronounced?
not necessarily
CNVM
5) Does
Diffuse (rhymes
is almost always
choroidal
unilateral
hemangioma:
with)Unilateral.
polyps syndrome
of the colon
--Solitary CHRPE
Retina
319
Multiple skin-colored to yellow–pink papules (arrows) on the face of a 64-year-old

woman with a history of colon and cervical cancer. A skin biopsy confirmed a diagnosis
of sebaceous adenoma resulting from Muir–Torre syndrome
320

Nevus of Ota
6) Iriswith
the name
Familial adenomatous polyposis, aka Gardner syndrome What sorts of sebaceous lesions?
2) What
the main
isUsually
two --
syndromes
juxtapapillary. Malignant of Muir-Torre
should syndrome?
comeextremely
transformation to mind.rare
Choroid
One is Gardner syndrome.
3) Multiple
What is sebaceous
Osteoma:
How is
the bony lesions
other?
Benign
Muir-Torre
of common
tumor, most
pronounced?
(but
-- not innecessarily limited to)
teen years, females. Riskthe eyelids
of CNVM
Muir-Torre syndrome and 4) Isolated/focal choroidal hemangioma:--Basal-cell
Very rare. Characteristic
carcinomasa-scan
with pattern
--If it is bilateral (regular CHRPE mureMuir-Torre
is
5) Does
Diffuse (rhymes
almost always with ‘pure’)
unilateral
choroidal hemangioma:
present ) tore-AY
with Unilateral.
multiple Found indifferentiation
adenomatous
sebaceous Sturge-Weber
polyps syndrome
of the colon a
--If the lesions are scattered throughout multiple
la Gardner sectors of the eyes (ie, not ‘grouped’)
syndrome?
--Solitary CHRPE
Retina
321

Nevus of Ota
6) Iriswith
the name
Familial adenomatous polyposis, aka Gardner syndrome What sorts of sebaceous lesions?
2) What
the main
isUsually
two syndromes
juxtapapillary. Malignant of
--Sebaceous-cellMuir-Torre
should come
transformation syndrome?
carcinomas
to mind.rare
extremely
Choroid
One is Gardner syndrome.
3) Multiple
What is sebaceous
Osteoma:
How is
the bony lesions
other?
Benign
Muir-Torre
of common
tumor, most
pronounced?
(but not innecessarily
--Sebaceous-cell limited to)
teen years, adenomas
females. Riskthe eyelids
of CNVM
Muir-Torre syndrome and 4) Isolated/focal choroidal hemangioma:--Basal-cell
Very rare. Characteristic
carcinomasa-scan with pattern
--If it is bilateral (regular CHRPE mureMuir-Torre
is
5) Does
Diffuse (rhymes
almost always with ‘pure’)
unilateral
choroidal hemangioma:
present ) tore-AY
with Unilateral.
multiple Found indifferentiation
adenomatous
sebaceous Sturge-Weber
polyps syndrome
of the colon a
--If the lesions are scattered throughout multiple
la Gardner sectors of the eyes (ie, not ‘grouped’)
syndrome?
--Solitary CHRPE
Retina
322

Nevus of Ota
6) Iriswith
the name
2) What
the main
isUsually
two syndromes
should syndrome?
comeextremely
Choroid
One is Gardner
3) Multiple
Osteoma:
How is
the bonylesions
other?
Benign
Muir-Torre
of (but
tumor, most
pronounced?
not necessarily
CNVM
5) Does
Diffuse (rhymes
is almost always
choroidal
unilateral
hemangioma:
with)Unilateral.
polyps syndrome
of the colon
--Solitary CHRPE
Retina
323

Nevus of Ota
6) Iriswith
the name
2) What
the main
isUsually
two syndromes
should syndrome?
comeextremely
Choroid
One is Gardner
3) Multiple
Osteoma:
How is
the bonylesions
other?
Benign
Muir-Torre
of (but
tumor, most
pronounced?
not necessarily
CNVM
5) Does
Diffuse (rhymes
is almost always
choroidal
unilateral
hemangioma:
with)Unilateral.
polyps syndrome
of the colon
--Solitary CHRPE
Retina
324

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
3) Osteoma: Benign bony tumor, most common
How is
in teen years,
Peutz-Jeghers
females. Risk of
pronounced?
CNVM
--If it is bilateral (regular CHRPE almost always unilateral Pyoots jeh·grz
5) Diffuse choroidal hemangioma:)Unilateral.
is Found in Sturge-Weber syndrome
--Solitary CHRPE
Retina
325

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
3) Osteoma: Benign bony tumor, most common
How is
in teen years,
Peutz-Jeghers
females. Risk of
pronounced?
CNVM
--If it is bilateral (regular CHRPE almost always unilateral Pyoots jeh·grz
5) Diffuse choroidal hemangioma:)Unilateral.
is Found in Sturge-Weber syndrome
--Solitary CHRPE
Retina
326

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
--If it is bilateral (regular CHRPE 5) Diffuse choroidal hemangioma:)Unilateral. Found in Sturge-Weber syndrome
--If the lesionsWhat
are isscattered
the mainthroughout
ophthalmicmultiple sectorsofofPeutz-Jeghers
manifestation the eyes (ie, not ‘grouped’)
--If the shapesyndrome?
of the lesions is pisciform
Simple lentigines of (but not necessarily limited to) the eyelids
Does Peutz-Jehgers present with multiple adenomatous polyps of the
colon a la Gardner syndrome?
--Solitary
Yes CHRPE
Retina
327

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
--Solitary
Yes CHRPE
Retina
328

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
ophthalmic multiple sectorsofofPeutz-Jeghers
the eyes (ie, not ‘grouped’)
What manifestation
are simple lentigines?
Flat melanocytic lesions histologically similar to ephelides
By what variant of the term ‘simple lentigines’ are they
also known?
colon a la Gardner syndrome?‘Lentigo simplex’
--Solitary
Yes CHRPE
Retina Does lentigo simplex have malignant potential?
No
329

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
also known?
--Solitary
Yes CHRPE
No
330

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
By what variant of the term ‘simple Whatlentigines’
are ephelides (singular, ephelis)?
are they
Does Peutz-Jehgers present with multiple adenomatous
also known? Freckles
polyps of the
--Solitary
Yes CHRPE
No
331

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
By what variant of the term ‘simple Whatlentigines’
are ephelides (singular, ephelis)?
are they
Does Peutz-Jehgers present with multiple adenomatous
also known? Freckles
polyps of the
--Solitary
Yes CHRPE
No
332
Peutz-Jeghers syndrome: Eyelid simple lentigines

333

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
also known?
--Solitary
Yes CHRPE
No
334

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
also known?
--Solitary
Yes CHRPE
No
335

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
also known?
--Solitary
Yes CHRPE
No
336

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
also known?
--Solitary
Yes CHRPE
No
337

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
Simple lentigines of (but not Inecessarily
coulda sworn lentigo
limited simplex
to) the had malignant potential.
eyelids
RPE 1) Congenital You
hypertrophy
sure of
By what variant
of
about the RPE (CHRPE)
this? ‘simple lentigines’ are they
the term
Does Peutz-Jehgers present Yes,multiple
with
also known? I’m sure. You’re thinking
adenomatous of lentigo
polyps of the maligna ,
CHRPE is characterized according pre-malignant melanocytic lesionways
to its
a simplex’presentation. In what two of thedoes it present?
skin.
colon a la Gardner syndrome?‘Lentigo
--Solitary
Yes CHRPE
No
338

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
limited simplex
eyelids
hypertrophy
sure of
By what variant
of
the term
with
two words
CHRPE is characterized according to its
a simplex’presentation. In what two ways
pre-malignant melanocytic lesion of the skin. does it present?
--Solitary
Yes CHRPE
No
339

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
What manifestation
limited simplex
eyelids
hypertrophy
sure of
By what variant
of
the term
with
CHRPE is characterized according pre-malignant melanocytic lesionways
to its
a simplex’presentation. In what two of thedoes it present?
skin.
--Solitary
Yes CHRPE
No
340

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
RPEeyelid1)lesions
Are lentigo simplex Congenital
the hypertrophy of the RPE
classic harbinger (CHRPE)
of Peutz-Jehgers syndrome?
No, pigmented lesions of thepresent
Does Peutz-Jehgers perioralwith
region are the
multiple classic/most
adenomatous common
polyps finding
of the
--Solitary
Yes CHRPE
Retina
341

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
RPEeyelid1)lesions
region are the
adenomatous common
polyps finding
of the
--Solitary
Yes CHRPE
Retina
342

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
RPEeyelid1)lesions
region are the
adenomatous common
polyps finding
of the
--Solitary
Yes CHRPE
Retina
343
Characteristic circumoral pigmentation in a patient with Peutz-Jeghers syndrome

344
Speaking of: Did you notice the pigmented lip lesions in this pic?
345

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
--Solitary
Yes CHRPE
Retina
346

Nevus of Ota
6) Iriswith
the name
extremely rare
mind. OneChoroid
are isscattered
the mainthroughout
--Solitary
Yes CHRPE
Retina
347

Nevus of Ota

RPE 1) Congenital hypertrophy of the RPE (CHRPE): Common. Deeply pigmented.

A CHRPE-like finding is associated with Gardner syndrome
Retina 1) ?
348

Nevus of Ota


Retina 1) Retinoblastoma (see the slide-set dedicated to it)

349

Nevus of Ota


1) ?

350

Nevus of Ota


1) Combined hamartoma of the retina and RPE

351

What is a hamartoma?
A tumor composed 3)ofLisch
histologically abnormal
nodules: Strong associationcells found
with NF1. in their
Lighter on darknormal location
5) Iris
So, what combination ofmammillations:
hamartomatous Tiny, numerous.
cells of theSame color as
retina andiris.RPE
Weak areassociation with NF1,
involved in
Nevus of Ota
a combined hamartoma of theCan
6) Iris cysts: retina and RPE?
be pupillary, stromal, secondary (see the Iris issues is kids slide-set)
RPE cells (duh) and retinal glial cells
How does it present1)clinically?

As a variably pigmented, slightly elevated retinal mass of the peripapillary retina
With what more sinister dz entity
5) Diffuse is ithemangioma:
choroidal often confused?
Unilateral. Found in Sturge-Weber syndrome
Choroidal melanoma--eyes have been enucleated because of this misdiagnosis


352

Iris/Ciliary Body bleedhyphemaincreased IOPglaucoma. Locally invasivedeath.
Tx: Enucleate
associationcells found in their
on darknormal location
opposite
clinical state
nodules: Strong with NF1. Lighter irides;
clinical state darker on light

5) Iris
cells of the Same color as
retina andiris.RPE
Weak are association with NF1,
involved in
Nevus of Ota



353

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota



354

What is the name of the reverse clinical entity, ie,
one with normal cells found in 1)
anJuvenile xanthogranuloma
abnormal location? (JXG): Nonneoplastic histiocytic proliferation. <2 years old.
A choristoma
?
histologically
normal IOPglaucoma. Locallyan abnormal Tx: Enucleate
invasivedeath.
nodules: Strong association with NF1. Lighter on darknormal
abnormal cells found in their location
5) Iris
hamartomatous Tiny, numerous. Same
cells of the color as
retina andiris.RPE
involved in
Nevus of Ota



355

A choristoma
choristoma
histologically
invasivedeath.
5) Iris
hamartomatous Tiny, numerous. Same
cells of the color as
retina andiris.RPE
involved in
Nevus of Ota



A choristoma
choristoma
What is a hamartoma? nonpigmented epithelium of CB. Presents: Iris mass before age 10 years. Can
Iris/Ciliary Body
A tumor composed 3)
ofLisch
histologically
invasivedeath.
So, what 5) Iris
ofmammillations: Tiny, numerous. Same color as iris.RPE
Thatcombination
a lesion isNevus hamartomatous
a hamartoma
of Ota
cells indicates
(or choristoma) of the retina
what and
about its onset? involved in
a combined hamartoma
That it is congenital of theCan
That a lesion is a hamartoma (or choristoma) indicates what about its status
vis a vis
How does malignancy?
it present 1)clinically?
That it is benign2) Melanocytoma: Usually juxtapapillary. Malignant transformation extremely rare


A choristoma
choristoma
Iris/Ciliary Body
A tumor composed 3)
ofLisch
histologically
invasivedeath.
So, what 5) Iris
Thatcombination
a hamartoma
of Ota
cells indicates
what and
vis a vis


A choristoma
choristoma
Iris/Ciliary Body
A tumor composed 3)
ofLisch
histologically
invasivedeath.
So, what 5) Iris
Thatcombination
a hamartoma
of Ota
cells indicates
what and
vis a vis


A choristoma
choristoma
Iris/Ciliary Body
A tumor composed 3)
ofLisch
histologically
invasivedeath.
So, what 5) Iris
Thatcombination
a hamartoma
of Ota
cells indicates
what and
vis a vis


360

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota



361

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota



362

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota



363

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota

As a variably pigmented, slightly elevated retinal mass of the peripapillary area retina


364

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota



365
Combined hamartoma of retina and RPE

366

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota



367

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota



368

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota
How can one avoid
RPE making
cells (duh)such
anda retinal
disastrous
glialmistake?
cells
By taking pains to carefully determine the anatomic location of the tumor
in question--choroidal
How doesmelanomas originate behind Benign
it present1)clinically?
Nevus: Common. Bruch’s membrane,
whereas combined hamartomas of 2) the retina and RPE
Melanocytoma: are
Usually located wholly
As a variably pigmented, slightly elevated retinal mass ofin the peripapillary retina
in front of it Choroid 3) Osteoma: Benign bony tumor, most common teen years, females. Risk of CNVM


369

with NF1. in their
5) Iris
retina andiris.RPE
involved in
Nevus of Ota
How can one avoid
RPE making
cells (duh)such
anda retinal
disastrous
glialmistake?
cells
By taking pains to carefully determine the anatomic location of the tumor
in question--choroidal
How doesmelanomas originate behind Benign
it present1)clinically?
Nevus: Common. Bruch’s membrane,
whereas combined hamartomas of 2) the retina and RPE
Melanocytoma: are
Usually located wholly
As a variably pigmented, slightly elevated retinal mass ofin the peripapillary retina
in front of it Choroid 3) Osteoma: Benign bony tumor, most common teen years, females. Risk of CNVM


370
Combined hamartoma of retina and RPE.

Note the entire lesion is above Bruchs
371

Nevus of Ota


1) Combined hamartoma of the retina and RPE: Benign, congenital retinal lesion
No question—summary/review slide

Intraocular Tumors of Childhood: Four Intraocular Locations (Ie, Structures/tissues)

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Intraocular Tumors of Childhood: Four Intraocular Locations (Ie, Structures/tissues)

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Intraocular Tumors of Childhood

? Four intraocular locations (ie, structures/tissues)

Intraocular Tumors of Childhood

Choroid Four intraocular locations (ie, structures/tissues)

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

JXG: Skin papules. The orangish color is classic

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

JXG: Iris lesion

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

JXG: Spontaneous hyphema

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Touton giant cells Foamy macrophages

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Intraocular Tumors of Childhood

Choroid When foamy macrophages are found in a biopsy performed

Intraocular Tumors of Childhood

Choroid When foamy macrophages are found in a biopsy performed

Intraocular Tumors of Childhood

Choroid When foamy macrophages are found in a biopsy performed

Intraocular Tumors of Childhood

Choroid When foamy macrophages are found in a biopsy performed

Intraocular Tumors of Childhood

Choroid When foamy macrophages are found in a biopsy performed

Intraocular Tumors of Childhood

Small-intestine biopsy stained with periodic acid-Schiff. Note the numerous

Intraocular Tumors of Childhood

Choroid When foamy macrophages are found in a biopsy performed

Intraocular Tumors of Childhood