Transcript Tuberous Sclerosis

Hussein Morfeq, MD
Department of Ophthalmology
King Abdulaziz University Hospital
Jeddah, Saudi Arabia
Saudi Arabia
Saudi Arabia
Saudi Arabia
Saudi Arabia
Saudi Arabia
Hussein Morfeq, MD
Department of Ophthalmology
King Abdulaziz University Hospital
Jeddah, Saudi Arabia
• Tuberous sclerosis complex (TSC) is a multisystem disorder
characterized by hamartomatous growths that can occur in
almost any organ or tissue.
• Tuberous sclerosis (Bourneville's disease) is an autosomal
dominant disorder with a defective chromosome 9.
• The first description of TSC is usually attributed to
Bourneville in 18801 and in 1908, Vogt described the classic
triad of epilepsy, mental retardation, and adenoma
sebaceum (now called angiofibromatosis).
The diagnosis is based on fulfilling:
One major criterion:
• Facial angiofibroma
• Ungual fibroma
• Subependymal hamartoma on brain imaging
• At least two retinal hamartomas or
Two minor criteria
• Infantile spasms.
• Hypopigmented skin macules.
• Shagreen patch.
• Bilateral renal angiomyolipoa.
• Cardiac rhabdomyoma.
• First-degree relative with the disease.
• Single retinal hamartoma.
Facial angiofibroma
Treatment of gingival fibromas using CO2 laser and electrosurgery in a patient with tuberous sclerosis .Daniel B Eisen MD, Nasim Fazel MD DDS.
Dermatology Online Journal 14 (11): 7
Ungual fibroma
http://tray.dermatology.uiowa.edu/TubScKT01.htm
Subependymal hamartoma
BMJ 2009; 339:b4133 doi: 10.1136/bmj.b4133 (Published 21 October 2009) Cite this as: BMJ 2009; 339:b4133
Hypopigmented skin macules
Interactive Medical Media LLC
Shagreen patch
http://bjr.birjournals.org
Ophthalmic features associated with
TSC can be divided into :
• Retinal
• Non-retinal
Retinal lesions
• Retinal lesions are astrocytic
“collection of astrocytes”.
hamartomas
Three basic morphological types of retinal hamartomas are
described in the literature:
1. The relatively flat, smooth, non-calcified, grey, translucent
lesion.
2. The elevated, multinodular, calcified, opaque lesion
resembling mulberries.
3. A transitional lesion which has morphological features of
both of the previous.
Other retinal findings include:
• Pigmentary
disturbance ranging
from
hyperpigmented areas (probably congenital
retinal pigment epithelium hypertrophy) to
“punched out” hypopigmented areas at the
posterior pole or midperiphery.
• 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.
• Retinoblastoma of the optic nerve and retina is the
most important lesion that must be differentiated from
the hamartomas seen with tuberous sclerosis.
Smooth non-calcified retinal hamartoma
(arrowed).
Ophthalmic manifestations of tuberous sclerosis: a population based study S A Rowley, F J O’Callaghan, J P Osborne. Br J Ophthalmol 2001;85:420–423
Calcified, multinodular retinal hamartomas
(“mulberry tumours”).
Ophthalmic manifestations of tuberous sclerosis: a population based study S A Rowley, F J O’Callaghan, J P Osborne. Br J Ophthalmol 2001;85:420–423
“Punched out” areas of chorioretinal
depigmentation.
Ophthalmic manifestations of tuberous sclerosis: a population based study S A Rowley, F J O’Callaghan, J P Osborne. Br J Ophthalmol 2001;85:420–423
Ophthalmic manifestations of tuberous sclerosis: a population based study S A Rowley, F J O’Callaghan, J P Osborne. Br J Ophthalmol 2001;85:420–423
Non-retinal findings include:
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Angiofibromas of the eyelids.
Coloboma of the iris, lens and choroid.
Strabismus.
Poliosis of eyelashes.
Papilloedema.
Sector iris depigmentation.
References
• Ophthalmic manifestations of tuberous sclerosis: a population
based study S A Rowley, F J O’Callaghan, J P Osborne. Br J
Ophthalmol 2001;85:420–423.
• Ophthalmic manifestations of tuberous sclerosis.Ann N Y Acad Sci.
1991;615:17-25.
• Current treatment modalities for exudative retinal hamartomas
secondary to tuberous sclerosis: review of the literature.Acta
Ophthalmol Scand. 2007 Mar;85(2):127-32.
• Hamartomas of the iris and ciliary epithelium in tuberous sclerosis
complex. Arch Ophthalmol. 2000 May;118(5):711-5.