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Optic Disc Tuber
Michael C. Brodsky, MD;
Ammar N. Safar, MD
Arch Ophthalmol. 2007;125(5):710-712.
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| Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings. |
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Tuberous sclerosis is an autosomal-dominant disorder characterized by enhanced proliferation of neural and astrocytic precursors. It is caused by mutations in either TSC1 or TSC2, with loss of hamartin or tuberin function.1 Affected patients exhibit a specific constellation of neurologic, cutaneous, visceral, and retinal lesions.2 The classic triad of epilepsy, adenoma sebaceum, and mental retardation is found in less than one third of cases diagnosed by current criteria.2
Unilateral optic disc elevation in tuberous sclerosis is usually attributable to an astrocytic hamartoma on the surface of the optic disc.3-4 These phakomas may gradually calcify but generally do not enlarge.3-4 We document preservation of vision despite massive enlargement of a tumor situated within the optic disc in a child with tuberous sclerosis.
Report of a Case
A 19-month-old girl was found to have swelling of the right optic disc. She had developed seizures at 6 weeks . . . [Full Text of this Article] Comment
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