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Tuberous Sclerosis

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. Tuberous Sclerosis. Hussein Morfeq , MD Department of Ophthalmology

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Tuberous Sclerosis

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  1. Tuberous Sclerosis Hussein Morfeq, MD Department of Ophthalmology King Abdulaziz University Hospital Jeddah, Saudi Arabia

  2. Saudi Arabia

  3. Saudi Arabia

  4. Saudi Arabia

  5. Saudi Arabia

  6. Saudi Arabia

  7. Tuberous Sclerosis Hussein Morfeq, MD Department of Ophthalmology King Abdulaziz University Hospital Jeddah, Saudi Arabia

  8. 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).

  9. The diagnosis is based on fulfilling: One major criterion: • Facial angiofibroma • Ungual fibroma • Subependymalhamartomaon brain imaging • At least two retinal hamartomasor

  10. Two minor criteria • Infantile spasms. • Hypopigmentedskin macules. • Shagreen patch. • Bilateral renal angiomyolipoa. • Cardiac rhabdomyoma. • First-degree relative with the disease. • Single retinal hamartoma.

  11. 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

  12. Ungual fibroma http://tray.dermatology.uiowa.edu/TubScKT01.htm

  13. Subependymalhamartoma BMJ 2009; 339:b4133 doi: 10.1136/bmj.b4133 (Published 21 October 2009) Cite this as: BMJ 2009; 339:b4133

  14. Hypopigmentedskin macules Interactive Medical Media LLC

  15. Shagreen patch http://bjr.birjournals.org

  16. Ophthalmic features associated with TSC can be divided into : • Retinal • Non-retinal

  17. Retinal lesions • Retinal lesions are astrocytichamartomas“collection of astrocytes”. Three basic morphological types of retinal hamartomasare described in the literature: • The relatively flat, smooth, non-calcified, grey, translucent lesion. • The elevated, multinodular, calcified, opaque lesion resembling mulberries. • A transitional lesion which has morphological features of both of the previous.

  18. Other retinal findings include: • Pigmentarydisturbance ranging from hyperpigmented areas (probably congenital retinal pigment epithelium hypertrophy) to “punched out” hypopigmented areas at the posterior pole or midperiphery.

  19. 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.

  20. 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

  21. 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

  22. 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.

  23. 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

  24. Non-retinal findings include: • Angiofibromas of the eyelids. • Colobomaof the iris, lens and choroid. • Strabismus. • Poliosisof eyelashes. • Papilloedema. • Sector iris depigmentation.

  25. References • Ophthalmic manifestations of tuberous sclerosis: a population based study S A Rowley, F J O’Callaghan, J P Osborne. Br J Ophthalmol2001;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.ActaOphthalmol 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.

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