See discussions, stats, and author profiles for this publication at: https://www.researchgate.

net/publication/314468415

Tuberous Sclerosis

Article  in  Delhi Journal Of Ophthalmology · March 2014

DOI: 10.7869/djo.41

CITATIONS READS
0 12

1 author:

Praveen Panwar
Indira Gandhi Medical College shimlaand Research Institute
11 PUBLICATIONS   8 CITATIONS   

SEE PROFILE

Some of the authors of this publication are also working on these related projects:

Minimal Duration Cataract Surgery (MDCS) - SICS without Superior rectus stitch, no conjunctival flap and no cauterization. Del J Ophthalmol 2012; 22 (4):275-278. View project

All content following this page was uploaded by Praveen Panwar on 31 March 2019.

The user has requested enhancement of the downloaded file.


Photo Essay
Praveen Kumar Panwar,
K.P Chaudhary, Kalpna Sharma
Indira Gandhi Medical College
Shimla , Himachal Pradesh, India
*Address for correspondence
Praveen K. Panwar MS
Din Dayal Upadhya Zonal Hospital,
Shimla, Himchal Pradesh, India.
Email: praveendr97@gmail.com
192
ISSN 0972-0200
Tuberous Sclerosis
Delhi J Ophthalmol 2014; 24 (3):192-194
DOI: http://dx.doi.org/10.7869/djo.41
Tuberous sclerosis complex (TSC) or Morbus Bourneville‐Pringle disease is an autosomal dominant
phakomatosis, first described by Desiree‐Magloire Bourneville in 1880. Tuberous sclerosis is a genetic
disorder characterized by the growth of numerous benign tumours in many parts of the body caused
by mutations on either of two genes, TSC1 and TSC2. This rare genetic disorder is usually associated
with a triad of seizures, mental retardation and cutaneous lesions. On radiological investigations,
calcified subependymal hamartomas, uncalcified cortical tubers, or and radial white matter lines,
are characteristic. The case of a 13 year old male presenting with abnormal body movements is
reported. On thorough clinical evaluation, he was diagnosed to be a case of tuberous sclerosis. Over
the skin of the face and forehead there were multiple papules of sebaceous adenoma. There was a
hypopigmented patch (ash leaf spots) present over elbow of right arm. Fundus examination showed
characteristic mulberry lesions of retina. CT scan of the skull showed subependymal hyperdense
nodules along outer borders of lateral ventricle.This case report emphasizes the importance of
complete evaluation of a case presenting with seizures. TSC must be included in the differentials of
children presenting with seizures, developmental delay and mental retardation.
Keywords : • retinal hamartoma • tuberous sclerosis • mullberry lesion
Tuberous sclerosis is a neurocutaneous On ocular examination, vision was 6/6
syndrome with prevalence of 1 per 6000- in both eyes. Adnexa and anterior segments
9000 individuals.1 It is inherited as an of both eyes were normal. Fundus
autosomal dominant trait with variable Examinations of right eye showed single,
penetrance. Two genes responsible for white, elevated, multinodular, calcified
tuberous sclerosis include TSC1 (located lesion resembling a mulberry, twice
at chrosome 9q34) and TSC2 (located at the size of the optic disc in the supero-
chromosome 16p13.3).TSC1 gene is more temporal part of retina (Figure 3). Fundus
responsible for familial cases of tuberous of left eye showed, two smooth surface,
sclerosis.2 The disorder is characterized flat, semitransparent, oval shape lesions
by a triad of mental retardation, seizures located in superficial retina on post pole.
and facial angiofibromas. However, the CT scan of the skull showed subependymal
diagnosis of tuberous sclerosis is established
hyperdense nodules along outer borders
by following the revised criteria for tuberous
of lateral ventricle (Figure 4). Abdominal
sclerosis complex.3 Retinal hamartomas have
ultrasonography, chest skiagram and
been reported in over 75% cases of tuberous
sclerosis but mulberry lesion of retina is echocardiography were normal.
characteristic of this syndrome.4,5 Here, we
report this case of tuberous sclerosis just to
document the characteristic lesions of retina.
A 13 year old boy presented to the eye
out patient department for ophthalmic
evaluation. He was admitted in Pediatric
ward for abnormal body movements. There
was no history of any ocular complaint. He
had poor scholastic performance for the last
6 years. His birth and developmental history
was not significant. Family history of the
patient was non contributory. On external
examination, the patient was well built but
he seems to be mental retarded from his
external appearance and behaviour. Over
the skin of the face and forehead there were
multiple papules of sebaceous adenoma
(Figure 1). There was a hypopigmented
patch (ash leaf spots) present over elbow of Figure 1: Adenoma Sebaceum of face
right arm (Figure 2).
Del J Ophthalmol 2014;24(3)
E-ISSN 0976-2892
Tuberous Sclerosis Photo Essay

Figure 3: Ash leaf spots over right elbow Figure 2: Fundus photograph of right eye showing multinodular, calcified lesion
resembling a mulberry in the supero-temporal part of retina (Retinal hamartoma)

Figure 4: Contrast enhanced axial image of CT head showing multiple
subependymal nodules at the level of frontal horn of lateral ventricles, basal ganglia
and foramen monro.
Discussion
Tuberous sclerosis or tuberous sclerosis complex (TSC) is
a rare, multi-system genetic disease that causes non-malignant
tumors to grow in the brain and on other vital organs such as
kidneys , heart, eyes ,lungs, and skin . A combination of symptoms
may include seizures, developmental delay, behavioural
problems, skin abnormalities, lung and kidney disease.TSC is
caused by a mutation of either of two genes TSC1and TSC 2, which
encode for the proteins hamartin and tuberin respectively. These
proteins act as tumor growth suppressors agents that regulate
cell proliferation and differentiation. The name, composed of the
Latin tuber (swelling) and the Greek skleros(hard), refers to the
finding of thick, firm and pale pathological gyri, called “tubers,”
in the brains of patients postmortem . These tubers were first
described by Désiré-Magloire Bourneville in 1880; the cortical
manifestations may sometimes still be known by the eponym
Bourneville’s disease. The clinical manifestations of TSC are now
known to be far more diverse. A more inclusive system of primary
and secondary diagnostic criteria have been introduced.3 Major
features include facial angiofibromas, nontraumatic ungula or
peri-ungual fibromas, hypomelanotic, macules,shagreen, patch,
retinal hamartomas, cortical, tubers, subependymal, nodule,
subependymal giant cell astrocytoma, cardiac rhabdomyoma,
lymphangiomyomatosis and renal angiomyolipoma. Minor
features include dental enamel pits, hamartomatous rectal
polyps,bone cysts, gingivalfibromas, nonrenal hamartomas,
retinal achromic patch,confetti skin lesions, renal cyst and
cerebral cortical dysplasia. The ophthalmic manifestations of
tuberous sclerosis include a variety of nonretinal ophthalmic
findings which, other than adenoma sebaceum of the lids, are
uncommon. Retinal hamartomas constituting the commonest
ocular abnormality in patients of tuberous sclerosis are
found in 50% to 80% patients. In half of these patients the
hamartomas occur bilaterally. Three basic morphologic types
of retinal hamartomas are recognized: the most common type
is a subtle, relatively flat, smooth-surfaced, salmon-colored,

www.djo.org.in 193

Photo Essay Panwar PK et al
semitransparent, and circularor oval-shaped lesion located in the
superficial retina, most commonly near or at the posterior pole.
The second type is an easily recognized opaque, white, elevated,
multinodular calcified lesion that is frequently described as
resembling a mulberry. A third type of lesion contains features
of the other two, being calcified and nodular centrally, whereas
its perimeter is semitranslucent, smooth, and salmon-colored.
The hamartomas may be richly vascularized. They generally
do not grow,but over decades some of the lesions may become
calcified. Visual loss from retinal and optic nerve hamartomas
rarely occurs. Because growth and change of the fundus lesions
are rare, treatment is not indicated.4
Other retinal findings include retinal pigmentary disturbance
ranging from hyperpigmented areas (probably congenital
retinal pigment epithelium hypertrophy)4 to “punched out”
hypopigmented areas at the posterior pole or mid periphery.6,7
Non-retinal findings include angiofibromas of the eyelids,
coloboma of the iris, lens and choroid,strabismus, poliosis of
eyelashes, papilloedema, and sector iris depigmentation. It is
also important to know that even though the disease does not
have a cure, symptoms can be treated symptomatically. Hence,
awareness regarding different organ manifestations of tuberous
sclerosis is important.
194
View publication stats
ISSN 0972-0200
Financial & competing interest disclosure
The authors do not have any competing interests in any product/
procedure mentioned in this study. The authors do not have any financial
interests in any product / procedure mentioned in this study.
References
1. Osborne JP, Fryer A, Webb D. Epidemiology of tuberous
sclerosis. Ann NYAcad Sci 1991; 615:125–7.
2. Weiner DM, Ewalt DE, Roach ES, Hensle TW. The tuberous
sclerosis complex, a comprehensive review. J Am Coll Surg
1998; 187:548-61.
3. Roach ES, Gomez MR, Northrup H.Tuberous sclerosis
consensus conference: revised clinical diagnostic criteria. J
Child Neurol 1998; 13:624-28.
4. Robertson DM. Ophthalmic manisfestations of tuberous
sclerosis. Ann NYAcad Sci 1991; 615:17-25.
5. Kiribuchi K, Uchida Y, Fukuyama Y, Maruyama H. High
incidence of fundus hamartomas and clinical significance of a
fundus score in tuberous sclerosis. Brain Dev 1986; 8:509-17.
6. Nyboer JH, Robertson DM, Gomez MR. Retinal lesions in
tuberous sclerosis. Arch Ophthalmol 1976; 94:1277–80.
7. Lucchese NJ, Goldberg MF. Iris and fundus pigmentary
changes in tuberous sclerosis. J Paediatr Ophthalmol Strabismus
1981; 18:45–6.
Del J Ophthalmol 2014;24(3)