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Article

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Sept 2021

Bacci Giacomo M, Polizzi Silvio, Mari Francesco, Conti Valerio, Caputo Roberto, Guerrini Renzo

Abstract excerpt

ABSTRACT: Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas,...

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Identifiers

PMID: 33110010
DOI: 10.1097/WNO.0000000000001099

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