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  • Title: Unilateral eyelid angiofibroma with complete blepharoptosis as the presenting sign of tuberous sclerosis.
    Author: Lopez JP, Ossandón D, Miller P, Sánchez L, Winter A.
    Journal: J AAPOS; 2009 Aug; 13(4):413-4. PubMed ID: 19683195.
    Abstract:
    Tuberous sclerosis is a multisystem autosomal-dominant disease characterized by hamartomatous growths in the brain, skin, kidneys, eyes, and heart, but it may affect almost any organ. Retinal hamartomas are 1 of the major diagnostic criteria for tuberous sclerosis and occur in approximately 50% of patients. Nonretinal findings include angiofibromas of the eyelid, strabismus, and pseudo-colobomas of the lens and iris. We report a case of a newborn with congenital eyelid angiofibroma mimicking complete congenital blepharoptosis that was revealed by central nervous system imaging to be part of the tuberous sclerosis complex.
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