SECTION 3: POSTERIOR UVEITIS

PRIMARY AREAS OF INFLAMMATION

A.

Vitreous opacities
Def: Main symptom of posterior uveitis (i.e. floaters and impaired vision)
Peripheral inflammation: floaters; minimal decrease in VA
Central inflammation: minimal floaters; definite decrease in VA (i.e. active choroiditis,
involving fovea/papillo-macular bundle)

Classification:
1. Fine individual inflammatory cells
2. Coarse due to severe tissue destruction
3. Snowball characteristic of pars planitis (can also occur in candidiasis and sarcoidosis)
4. Stringy opacities due to alterations in vitreous gel
B.

Choroiditis
Morph: Characterized by yellow/greyish patches with fairly well-demarcated borders
Inactive lesions: White well defined areas (atrophy)
Classification: Depends on site and presentation focal, multi-focal, geographical

AETIOLOGY
A. Tuberculosis:
Prevalence: Increasing due to decreased immunity (malnutrition and AIDS)
Symptoms:
a. Long term cough;
b. bronchitis;
c. dysapnea;
d. bloody sputum
Signs:
a. Uveal seeding caseating nodules/small miliary tubercles (focal/multifocal choroiditis)
b. Pars planitis
c. Less cells in vitreous
d. White fluffy haziness around vessels with inflammation
Path: Active disease is highly contagious
Tests: Chest X-ray

B. Sarcoidosis:
At Risk:
- African-American women in USA
- Blacks 10x more than whites
Ocular sequelae: (50% of patients have this)
a. Multi-system
b. Non-caseating
c. Granulomatous
d. Non infectious
e. Hypercalciurea
f. Elevated ACE levels
Chronic: Bilateral iridocyclitis; Acute: Unilateral
Signs and symptoms:
a. Dense posterior synechiae
b. Mild pain
c. Photophobia
d. Extremely large KPs (mutton fat)
e. Iris nodules
Complications: Glaucoma and cataracts
Posterior segment involvement:
a. Vitirits (vitreous snowballs)
b. Candlewax drippings venule involvement > complication of retinal branch vein
occlusion due to inflammatory cell exudates; active lesions stain with Fl
c. Peri-venous sheathing
d. Choroidal lesions (Dalen-Fuchs nodules)
e. Granuloma (rare)
f. Chronic cystoid macular oedema
g. Neovascularization of disc and peripheral neovascularization
h. Optic disc swelling/granuloma
Systemic signs:
a. Lungs
b. Bilateral hilar lymph adenopathy
c. Fibrotic lesions later
d. Skin lesions > erythema nodosum and sarcoid nodules
Investigations: Chest x-ray; ACE levels
DDX: Sickle cell disease, TB, idiopathic pars planitis
TX: steroids (ocular and peri-ocular), per os, cycloplegics
*Sarcoidosis Question
Forty year old black female > mutton fat KPs + Iris nodules + chronic chest pain + negative TB
test
a. Differential diagnosis based on limited history > first systemic disease to consider.
Explain (2)
Sarcoidosis
Most common in femles
10x more common in blacks
b. Posterior segment involvement (8)
c. Investigations carried out by GP to confirm diagnosis (2)
*TB and Sarcoidosis Question
Ophthalmoscopy > vascular accumulations of granulomatous tissue + pars planitis + chronic
cough associated with chest pain (20)
Differential diagnosis > possible systemic illness

 Indicate other manifestations

Investigations to isolate systemic conditions
Answer:
Signs and symptoms:
1. Granulomatous tissue at blood vessels; severe periphlebitis
2. Pars planitis (therefore cells in vitreous)
3. Patient coughs (therefore lung is implicated)
DDx:
Sarcoid or TB
Histoplasmosis is negated due to presence of cells in vitreous
Toxocariasis is negated: granulomatous tissue but not associated with blood vessels
Sarcoid:
Signs and symptoms
1. Candlewax drippings
2. Pars planitis
3. Lung involvement (fibrotic bilateral lymph adenopathy)
4. Skin lesions (sarcoid nodules)
5. Iridocyclitis (uni or bi)
6. Posterior synechiae
7. Mild pain and photophobia
8. Large KPs
9. Iris nodules
Complications:
1. Cataracts
2. Glaucoma
Posteriorly:
1. Vitirits (candlewax drippings)
2. Perivenous sheathing
3. Choroidal lesions (Dalen Fuchs nodules)
4. Choroidal granuloma
5. Chronic CME, NVD (+NVE)
6. Optic disc swelling
Investigations:
1. Chest x-ray
2. ACE levels
3. Hypercalciuria
4. Non infectious (you dont see a doctor)

TB:
Signs and symptoms:
1. Chronic cough
2. Bronchitis
3. Dyspnea
4. Bloody sputum
5. Focal/multi-focal choroiditis as small caseating nodules/miliary tubercles
6. Pars planitis
7. Periphlebitis (severe)/candlewax drippings
8. Chronic anterior uveitis
Investigations:
1. Chest X-ray
2. Active disease highly infections
3. See a doctor especially if you are immune compromised

*TB and Sarcoidosis Question 2

Twenty-six year old black female > light sensitive + chronic eye conditions presenting in one eye
then the other + lid granuloma on inferior left lid + chest pain > differentiate between two of the
more likely systemic conditions she may have:
a. List the two conditions (2)
TB and Sarcoidosis
b. Motivate differential diagnosis (4)
TB: Chest pain
Sarcoidosis: Black female; Lid granuloma; photophobia; chest pain
c. Other possible ocular findings and complications for each diagnosis (15)
TB: Uveal seeding, leading to caseating nodules or small military tubercles +
focal/multifocal choroidits + pars planitis + less cells in vitreous but white fluffy haziness
around vessels with inflammation
Sarcoidosis: Bilateral iridocyclitis + dense posterior synechiae + mild pain + large KPs
(mutton fat) + iris nodules + cataracts + glaucoma + posterior segment involvement
d. Describe the more common systemic manifestations in each (7)
TB: Long term cough; bronchitis; dyspnea; bloody sputum;
Sarcoidosis: Bilateral hilar lymph adenopathy with fibrotic lesions later; skin lesions
(erythema nodosum and sarcoid nodules under skin)
e. Medical investigation and single blood test most likely to confirm final diagnosis (2)
Chest X-ray; elevated ACE levels = Sarcoid

C. Syphilis:
Def: Chronic infection caused by spirochete
Treponema Pallidum:
- Acquired or congenital
- Diagnostic tests: FTA ABS always +; VDRL positive only when active
- No pathogenic signs for ocular syphilis > suspect intraocular inflammation resistant to
conventional therapy
- External features: Madarosis, scleritis, keratitis
- Iridocyclitis: usually acute and may be associated with roseolae; without Tx becomes
chronic
Chorioretinitis:
- 50% bilateral > multifocal or diffuse
- Diffuse observed by diffuse greyish-yellow exudation more marked in midretinal
periphery and may surround optic disc
- Periarteritis and periphlebitis
- If not treated, course is prolonged
- Healed > Extensive pigmentary changes with perivascular bone spicules (like RP);
night blindness; ring scotoma
D. Toxoplasmosis:
Common cause of posterior uveitis
Congenital aetiology:
- Mom handled cat litter in 1st trimester
- Caused by intracellular protozoan toxoplasma gondii > predilection for CNS and areas
with increased blood supply (disc and choroid) > intracranial calcifications >
convulsions
Chorioretinitis:
1. Blurred vision > floaters with little/no pain; no photophobia
2. Yellow-white fluffy retinal lesion with hazy vitreous > dt inflamed cells
Usually focal, but may be multi-focal
Old lesions > quiescent scars seen adjacent to new active satellite lesions
Active form (severe vitritis) > BIO > typical headlight in fog appearance
3. Vitreal precipitates on posterior vitreal fface
4. Other signs = disc oedema, retinal vasculitis; vein occlusion at area of inflammation
5. VA varies depending on location
6. Ay be old scars in fellow eye
7. Later may get cystoid macular oedema (CME) from extra-foveal lesion or (rarely)
SRNVM > can lead to Rhegmatogenous retinal detachment dt breaks in retina in active
lesions
8. If many active or recurrent lesions > immunosuppression
*Toxoplasmosis Question
Binocular indirect ophthalmoscopy on immune-suppressed patient > headlights in the fog
a. Most likely aetiology (1)
b. Other signs observed in this active lesion (1/2 mark each for 3 marks)

E. Histoplasmosis (POH)
Aetiology:
- Fungus found worldwide;
- contracted through inhalation/dermal breaks
- Endemic in North and Natal
- Spores transported by bird and bat droppings
- 20-50y
Systemic involvement: Manifests as summer flu with pneumonia or chronic cough
3 forms of disease:
1. Acute pneumonitis
2. Acute progressive form (fatal)
3. Chronic form similar to TB
Calcifications: may show in lung, liver and spleen
Ocular manifestation: Classic triad presents with chronic attacks > asymptomatic unless
maculopathy
1. Disseminated Choroiditis Histo Spots
Occurs as chorioretinal atrophy in mid-periphery
Can coalesce > streaks running parallel to ora serrate
Normally 4-8 spots per eye
Lesions: Irregular, whitish-yellow, depigmented, atrophic, 0.2-0.7DD in size
Pigment clumps within or at margin
Lesions may get larger, smaller or disappear, and can be at posterior pole
2. Peripapillary Atrophy
Usually seen as diffuse circumferential choroidal atrophy
0..5DD beyond optic disc
Common finding due to underlying choroiditis
Lesions may be nodular and appear punched out (rare)
3. Maculopathy:
Small histo spots ccause CNVM
First sign = metamorphopsia dt neovascular membrane leakage
Sight-threatening and choroid takes on ground glass appearance
RPE detachment probably
Central serous retinopathy:
- Occurs in 10% of px
- Subretinal haemorrhagic lesion and possible detachment in most px
- Sen as dark green-black ring on surface of yellow-white lesion where bleeding has
occurred
- Macular attacks vary from once a month to years
- Most changes lead to severe visual impairmen
- Few px have spontaneous resolution
- Vitreous has no cells >never involved as presence of cells negates diagnosis

Investigation:
1. Chest x-ray
2. HLAB7
3. Histoplasmin skin test (may activate inactive histo)
4. CBC
5. ESR
6. Liver function tests
7. Fluorescein angiography to rule out CNVM
8. Hx of contact of birds or of living in endemic area
9. If px is over 40 and histo spots are observed, must rule out CNVM and check for CSR by
giving patient Amsler grid to check self
Ocular Treatment:
1. Argon laser photocoagulation to treat CNVM
If not treated, VA is usually less than 6/60
2. Anti-fungal treatment if unsuccessful
3. Oral steroids can reduce inflammation when episodes start (Prenisone 80-100mg)
4. PO QD
F. Candidiasis:
Definition: Yeast
Aetiology:
1. Immunosuppressed
2. IV drug users
3. Long term indwelling catheters
Signs:
1. Focal or multifocal choroiditis
2. Multifocal retinitis
3. Possible extension of lesions into vitreous gel
4. Chronic endophthalmits
5. Retinal necrosis and detachment
G. Herpes Zoster:
Definition: Virus infection of first division of trigeminal nerve
Aetiology: Incidence increases with age and is more common and severe in
immunosuppressed
Signs:
1. 40% of px develop ipsilateral iridocyclitis within 2 weeks of rash onset (Hutchinsons
sign px more at risk) > Non-granulomatous with small KPs
2. Anterior chamber reaction (cells and flare) usually mild
3. Retinitis > yellow retinal exudates + retinal haemorrhage + vascular sheathing
Treatment: Treat vigorously with topical steroid to prevent anterior uveitis becoming
chronic (taper)
Complications of anterior uveitis:
1. Iris atrophy and sectorial loss of iris pigment epithelium due to ischaemic occlusive
vasculitis
2. Secondary glaucoma due to inflammation ad trabecular obstruction
3. Secondary cataract
4. Rarely phthisis may occur due to severe ischaemia of CB
H. Herpes Simplex
Three settings occur:
1. With dendritic ulceration:
Acute anterior uveitis

Possible secondary glaucoma

Iris atrophy that has small, defined areas with scalloped borders
2. With disciform keratitis:
Mild anterior uveitis
Small to medium KPs which are normally on the back of the disciform lesion in the
cornea
IOP slightly elevated
3. Unassociated with keratitis:
Mild to moderate anterior uveitis
Tx: If active epithelial keratitis is present > use steroids and mydriatics > never use topical
steroids

I. Acquired cytomegalovirus (CMV)

Aetiology:
Was a rare chronic diffuse exudative infection of retina
Occurs commonly in px with impaired immunity (most common ocular infection in
AIDS px) > CD4 + T-lymphocyte count drops below 50/mm 3
Nearly always due to:
a. AIDS
b. Cytotoxic chemotherapy
c. Long term immunosuppression Tx (following organ transplants)
Pathogenesis:
1. HIV-induced retinal microangiopathy: white spots (cotton wool spots) = asymptomatic
and usually resolves spontaneously
2. Indolent CMV retinitis with mild granular opacification > whitish areas develop into
geographical yellow-white larger granular areas = full thickness retinal necrosis and
oedema
3. Can start peripherally or at posterior pole
4. Later lesions coalesce and associated with retinal haemorrhages and vasculitis (Brushfire lesions) = Fulminating CMV retinitis > spread to involve whole retina, leading to
total retinal atrophy
5. Some eyes develop exudative or rhegmatogenous retinal detachments
*CMV Question
Brush-fire lesions on fundus > immune-suppression (10) --CMV
State associated aetiologies
Describe what could be observed from earliest fundus presentation to most advanced

J. PORN in AIDS Progressive outer retinal negrosis

Aetiology: Second most common retinal infection in AIDS; Caused by varicella zoster virus
variant
Pathogenesis:
1. Rapid and progressive visual loss
2. Unilateral then bilateral due to multifocal, deep, yellow white infiltrates which coalesce,
becoming full thickness retinal necrosis and involve macula
K. ARN Acute retinal necrosis
Definition: Rare and necrotizing retinitis
Aetiology: Affects otherwise healthy individuals from variants of Herpes virus
L.

AIDS
Karposi sarcoma
Protozoa (pneumonia and toxoplasmosis)
Viruses
Fungii (especially candidiasis)
Bacteria (especially mycobacteria and Cryptococcus causing choroiditis)

M. Cryptococcus causing Choroiditis

Signs:
Usually CNS is affected (meningitis) with minimal ocular involvement
Small usually asymptomatic yellow white multifocal choroidal lesions
May later involve optic nerve and retina with VA loss

N. Toxocariasis
Aetiology: Parasitic infestation caused by intestinal round worm of cats and dogs;
Pathogenesis:
1. Humans ingest contaminated soil/food containing parasite ova (PICA)
2. Ova develop into larvae and migrate to various organs including eye
3. Larvae die and cause inflammatory reaction followed by granulation
4. Initial infection around 2y = fever, cough, skin lesions (circular rash) and convulsions >
eyes spared at this stage (boys>girls)
Ocular Toxocariasis:
1. Unilateral
2. Presents as leukocoria, stsrabismus or unilateral vision loss (DDx retinoblastoma)
3. Elevated white retinal lesion seen at pars plana
4. Fibrous band if formed from lesion to ONH usually causing change in retinal
architecture
5. Severe vitritis reaction from dead larvae
Most common lesions:
1. Diffuse (chronic):
a. 2-9y
b. Endophthalmitis (with posterior synechiae)
2. Macular retinal granuloma
a. Also called posterior pole granuloma
b. Loss of vision
c. Can be between optic disc and macula
d. 1-2DD in size
e. Elevated
f. 6-14y
3. Peripheral granuloma
a. VA can be normal depending on location and complications
b. Lesion located at or anterior to equator in any quadrant of eye
c. Vitreous bands extend to posterior fundus
Complications of all lesions:
1. Macular scarring
2. Glaucoma
3. Cataracts
4. Retinal detachment
Investigation:
1. ELISA
2. Vitreous aspiration
3. ESR and CBC
4. B scan
Tx:
1. Periocular steroidsd
2. Oral steroids
3. No anti-helminth
4. Prognosis is poor if macula is involved
*Toxocariasis question
Pica: (20)
a. What is meant by Pica?
People who eat the ground and other earthly things. Most likely to have vitamin deficiency
b. State choroiditis with which Pica is associated
Ocular toxocariasis
c. Initial infection > include signs and Sx
Pathogenesis
d. How and when could this affect eye

O.

Ocular
e. Possible ocular presentations
Red eye
Pain
Tearing
Photophobia
KP
Iris nodules
f. Possible ocular complications
Complications
g. Possible treatment options
Tx
Pars Planitis
Prevalence: 8% of all uveitis; typically affects child or young adult
Definition: Insidious chronic idiopathic intraocular inflammation
Presentation: 80% bilateral, but often asymmetrical (20-40)
Signs and symptoms:
1. Floaters
2. Macular oedema > decreased vision
3. Vitritis: Early = cells in vitreous; Late = snowballs; Longstanding = sheet-like
condensation
4. PVD
5. Mild peripheral vasculitis with sheathing of terminal vessels
6. Hallmark = grey-white plaque involving inferior pars plana = snowbanking
7. Lasts several years
Complications: Cystoid macular oedema, cataract, tractional retinal detachment

*Pars Planitis question

Describe profile of patient, clinical presentation and complications in px with pars planitis (15)

P. White Dot Syndrome

Definition: Group of idiopathic multifocal inflammatory conditions involving retina and
choroid; Characterized by white dots in fundus
Diseases:
1. Acute posterior multifocal placoid pigment epitheliopathy (APMPPE)
2. Serpiginous choroiditis (SC)
3. Multiple evanescent white dot syndrome (MEWDS)
4. Multifocal choroidits and Panuveitis (MCP)
5. Panctate inner choroidopathy (PIC)
6. Diffuse subretinal fibrosis (DSF)
7. Presumed ocular histoplasmosis syndrome (POHS)
8. Birdshot retinochoroidopathy
Q. APMPPE
At Risk: young healthy adults
Presentation: Multiple yellow-white placoid subretinal lesions of posterior pole; usually
bilateral; aetiology unknown
Definition: Acquired inflammatory disorder that affects retina, RPE and choroid
TX: Self-limited and resolves in weeks to mmonths
Complications: Circumscribed areas of RPE disturbance; VA affected if macula is involved
Associated findings:
1. Episcleritis
2. Optic neuritis
3. Erythema nodosum
4. Microvascular nephropathy
5. Thyroiditis
6. Labyrinthitis
7. Hearing loss
8. Cerebral angiitis
R. BSRC (Birdshot retinochoroidopathy)
Presentation: Multiple small white or yellow spots scattered around posterior pole; Chronic
posterior uveitis
Aetiology: Unknown, but may be related to inherited immune dysregulation; other factors
required to provoke onset
Severity: Mild to potentially binding if macular pathology results; Initial stages = mild; VA
not worse than 20/40, and rarely below 20/80
Significant impairment > VA loss
1. Macular oedema
2. Macular involvement by active lesion
3. Atrophic scar
4. Severe vitritis
5. Choroidal neovascular membrane
Investigation: Slit lamp biomicrosopy; eye usually quiet; anterior chamber cells with
significant vitreal reaction

SUPPURATIVE UVEITIS
A. Endophthalmitis
Definition: Severe form of intraocular inflammation involving ocular cavities and
immediate adjacent structures without extension of inflammation beyond sclera (i.e.
aqueous or vitreous humour)
Aetiology: Usually caused by infection; Non-infectious (sterile) endophthalmitis may result
from various causes, such as retained native lens material after operation or from toxic
agents
2 Types: Endogenous (metastatic) and exogenous
Endogenous:
- Results from hematogenous spread of organisms from distant source of infection (e.g.
endocarditis)
Exogenous:
- Results from direct inoculation as complication of ocular surgery, foreign bodiese
and/or blunt or penetrating ocular trauma
- 60% occur after intraocular surgery > endophthalmitis begins 1 week after surgery
- Post-cataract endophthalmitis is most common form > 0.1-0.3% of operations
Bacterial and fungal endophthalmitis > signs and symptoms
Signs
Symptoms
1. Hypopyon (layering of inflammatory cells
1. Headache
2. Visual loss
and exudate (pus) in anterior chamber)
3. Eye pain
2. Vitritis
4. Irritation
3. Chemosis
5. Photophobia
4. Reduced or absent red reflex
6. Ocular discharge
5. Proptosis (late finding inn panophthalmitis)
7. Fever
6. Papillitis
8. Intense ocular and periocular inflammation
7. Cotton-wool spots
9. Injected eye
8. Corneal edema and infection
10.Eyelid swelling and erythema
9. White lesions in choroid and retina
11.Injected conjunctiva and sclera
10.Chronic uveitis
11.Vitreal mass and debris
12.Purulent discharge
13.Cells and flare in anterior chamber on slit
lamp exam
Absence of pain and hypopyon do nott rule out endophthalmitis, particularly in chronic
indolent form
At risk: Individual usually have co-morbidities that predisposes them to infection
1. Diabetes mellitus
2. Chronic renal failure
3. Cardiac valvular disorders
4. Systemic lupus erythematosus
5. AIDS
6. Leukemia
7. Gastrointestinal malignancies
8. Neutropenia
9. Lymphoma
10.Alcoholic hepatitis
11.Bone marrow transplantation
B. Panophthalmitis
Similar to endophthalmitis, but inflammation extends to outer ocular coats and Tenons
capsule
If very severe, orbital tissues may be involved

COMPLICATIONSOF UVEITIS
Anterior uvea complications:
1. Keratitis and keratopathy:
- Aetiology:
a. Keratitis occurs due to infectious organisms, inflammation and degenerative
diseases
b. Band keratopathy associated with low grade chronic iritis seen in children with
chronic arthritis and in adult eye with chronic inflammation > few cases associated
with hypercalcaemia
- Complication:
a. Suppurative uveitis
b. Deposition
c. Band keratopathy associated with hypercalcaemia > Large deposits of Ca > painful
erosions
- Tx: Surgically removed (superficial keratectomy or excimer lazer)
2. IOP: See section 2
3. Cataract:
- Phaco-anaphylactic reaction
- See section 2 granulomatous inflammation due to rupture of lens capsule
Posterior uvea complications
1. Cystoid central retinal oedema (Cystoid macular oedema)
- Aetiology for macular oedema
a. Posterior segment inflammation
b. Retinal ischaemia
c. Retinal vascular leakage
- Symptom: Usually but not always associated with reduced VA
- Cystoid oedema: Occurs when cystic accumulations of fluid surround macula in petaloid
appearance and may lead to lamellar hole formation
2. Retinal detachment
- Aetiology:
a. Most common cause = break/discontinuity in neuroepithelium with recruitment of
fluid from vitreous cavity into subretinal space via break
b. Uveitis complication > tractional retinal detachment occurs in pars planitis where
pars plana exudate becomes vascularized from ciliary body > contraction of
fibrovascular tissue leads to tractional retinal detachment and vitreous
haemorrhage (also in toxoplasmosis)
c. Exudative retinal detachment may occur due to leakage from vessels
3. Optic nerve oedema
- Oedema due to hypotony may occur
- Seen as papilloedema in chronic anterior uveitis and intermediate uveitis

UVEITIS SYNDROMES
1. Sarcoidosis
2. Bechets disease
- Aetiology:
a. Males more than females
b. Eastern and Mediterranean origin
c. HLA B51 antigen related to ocular involvement
- Presentation:
a. Triad of uveitis, oral and genital ulceration
b. Skin lesions > erythema nodosum, pustules, thrombo phlebitis
c. Hypopia in acute recurrent iridocyclitis

DEGENERATIVE CONDITIONS
1. The iris
A. Essential iris atrophy
Signs:
1. unilateral glaucoma;
2. Corectopia;
3. Pseudopolycoria;
4. Peripheral anterior synechiae
5. Corneal endothelium has abnormal appearance with large pleomorphic cells
Pathogenesis
Initially, iris stroma thins in midperiphery and pupil becomes eccentric, with fullthickness hole formation later
If severe, ectropion uvea occurs
B. Secondary Iris atrophy
Aetiology: Vasculitis of iris vessels; Herpes Zoster uveitis
Presentation: Sectorial
C. Rubeosis iridis
See section 2
2. Choroidopathic (See retinal degeneration, section 2)
A. Idiopathic central serous chorioretinopathy
Also called central serous retinopathy or choroidopathy
Aetiology: Associated with type A personality
Patogenesis: In macula area, fluid is leaked under sensory layer and small focal area
of detached RPE layer results with loss of vision
B. Central areolar choroidal atrophy
Variant of age related macular degeneration
Signs:
a. Sharp circumscribed demarcation line between normal and abnormal retina
b. Central atrophy of choriocapillaries, RPE and photoreceptors, revealing the large
choroidal vessels in base
c. Lesions start in macular area and gradually increase in extent with time
d. Drusen not normally seen
C. Gyrate atrophy
Definition: Extremely rare autosomal recessive disease
Aetiology:
a. Metabolic defect of amino acid ornithinie
b. Affects 20-30y who present with poor night vision
Signs:

D.

E.

F.

a. Fundus: scalloped and well circumscribed areas of corioretinal atrophy in equatorial

region surrounded by normal retina
b. Areas expand centrally and peripherally with severe loss of vision
c. Retinal blood vessels and optic disc remains normal
Choroideremia
Definition: X-linked retinal dystrophy
Aetiology: Males in second decade presenting with blindness
Pathogenesis:
a. VA fair till 40-50y
b. Initial changes I equatorial region of retina with patchy areas of atrophy of choroid
and retina
c. Progression until only sclera remains
d. Macula spared till late
e. Unlike RP, retinal vessels and disc remain comparatively normal
Myopic choroidal retinal degeneration
Myope >10D: RD, Glaucoma, cataracts, atrophic macular degeneration
Myopic disciform degeneration/lesion:
YA
Presents as small localized haemorrhage which doesnt give rise to extensive
exudate or serous detachment
Once healed, leaves small pigmented scar
Recovery of vision much better than with other disciform lesions
Advanced atrophic macular degenerations:
More severe
Seen as widespread chorioretinal atrohy centred on macula, often with posterior
staphyloma
Thinning of RPE and splits, or fine cracks in Bruchs membrane > choroidal
rupture/lacquer cracks
Serpiginous choroidopathy (geographic choroiditis)
Definition: Rare idiopathic recurrent disease affecting RPE and choriorcapillaries
Prevalence: 40-60y
Presentation: Bilateral but asymmetrical
Pathogenesis:
a. Chorioretinal lesions start at disc and spread outwards
b. Initially lesion is pale with RPE atrophy
c. Later presents as greyish subretinal swelling when relapse occurs
d. Spreads in serpiginous fashion
e. If macula is involved, sudden scotoma or vision loss occurs; otherwise VA is variable
f. Subretinal neovascularization may develop with membrane formation
Tx: Corticosteroids (controversial)

NEOPLASMS
1. Iris and ciliary body
Naevus
Signs
1. Pigmented/amelanotic
2. Vascular/avascular
3. Bulky/flat
4. Extend to the angle

After puberty > more deeply pigmented

or enlarged
Px with neurofibromatosis develop
multiple hemartomatous naevi

DDX:
Cogan-Reese syndrome

Management
Very rare for iris freckle to become
malignant
Change in shape, size and uniformity
should be investigated

Malignant melanoma
Signs
Most tumours of iris are melanocytic
neoplasms
If tumour extends to angle,
transpupillary transillumination may
reveal ciliary body involvement

Prevalence
More common in lightly coloured eyes
DDx:
Iris cysts may mimic melanoma when they
arise from posterior surface of iris (i.e.
pigmented)
Management
May be indistinguishable clinically from
naevi
Prolonged observation required to check
growth
Metastases to iris rare

2. Choroid/Ciliary body
Naevi
Signs
Benign melanoma > absence of serous
RD
If bulky, can become malignant
Melanotic from choroid
Varies from dense black lesion to
completely amelanotic
Typical naevus:
Asymptomatic, flat or minimally elevated
(<2mm)
Oval/circular
Slate grey
<5mm diameter
Complications:
RPE shows mild secondary degenerative
changes

Pathogenesis:
RPE shows mild secondary degenerative
changes
Predominance of drusen in later years
No/very little lipofusin

Risk

Occurs rarely in racially pigmented eyes

10-30% Caucasian population
Probably present at birth
Max growth in prepubertal years
After this, growth is rare and should
arouse suspicion

Choroidal malignant melanoma

Signs and sx:
Tumours may be asymptomatic
Exudative RD > blurred vision
Visual field defect
Macular involvement

Complications:
Secondary degenerative changes in
overlying tissues
Choriocapillaries fill with tumour and is
destroyed
Pathogenesis
Lipofuscin (orange pigment) observed
ophthalmoscopically with hard and soft
drusen
Tumour may rupture Bruchs membrane
and RPE and form globular head > may
have its own vasculature
Less often > tumours are diffuse and
flat, more aggressive, and extends extraocularly
Risk
Rare
Adult Caucasians 6mil/yr
Incidence increases with age

Presentation
80% of all uveal melanomas arise in
choroid
12% in ciliary body
8% in irris
DDx: Hemangioma by B-scan > melanomas are
highly reflective
Tx:
(Without Tx, tumour will metastasize via painful
blind eye > fatal)
Local radiotherapy, excision,

enucleaution

3.

Choroidal metastasis (metastatic carcinoma)

Definition: Secondary tumours
Sign: Slightly elevated and depigmented (due to rapid growth)
Systemic: Bronchial (men) and breast (women) tumours > commonly feature of terminal
illness

4. Choroidal hemangiomas (can get localized and diffuse)

Localized: very rare benign vascular tumour
Diffuse: associated with Sturge-Weber syndrome
- Tumour is flat and diffuse
- Whole fundus is deep red with overlying serous RD