Tuberous Sclerosis

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Hussein Morfeq, MD Department of Ophthalmology King Abdulaziz University Hospital Jeddah, Saudi Arabia

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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 - PowerPoint PPT Presentation

Transcript of Tuberous Sclerosis

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Hussein Morfeq, MDDepartment of Ophthalmology

King Abdulaziz University HospitalJeddah, Saudi Arabia

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Saudi Arabia

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Saudi Arabia

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Saudi Arabia

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Saudi Arabia

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Hussein Morfeq, MDDepartment of Ophthalmology

King Abdulaziz University HospitalJeddah, Saudi Arabia

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• 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).

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The diagnosis is based on fulfilling:

One major criterion:•Facial angiofibroma•Ungual fibroma•Subependymal hamartoma on brain imaging•At least two retinal hamartomas or

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Two minor criteria

•Infantile spasms.

•Hypopigmented skin macules.

•Shagreen patch.

•Bilateral renal angiomyolipoa.

•Cardiac rhabdomyoma.

•First-degree relative with the disease.

•Single retinal hamartoma.

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Facial angiofibromaTreatment 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

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Ungual fibroma

http://tray.dermatology.uiowa.edu/TubScKT01.htm

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

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Hypopigmented skin macules

Interactive Medical Media LLC

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Shagreen patch

http://bjr.birjournals.org

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Ophthalmic features associated with TSC can be divided into :

•Retinal

•Non-retinal

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Retinal lesions• Retinal lesions are astrocytic hamartomas

“collection of astrocytes”.

Three basic morphological types of retinal hamartomas are 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.

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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.

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• 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.

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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

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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

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“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

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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

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Non-retinal findings include:

•Angiofibromas of the eyelids.•Coloboma of the iris, lens and choroid.•Strabismus.•Poliosis of eyelashes.•Papilloedema.•Sector iris depigmentation.

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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.