Portal de Periódicos da CAPES

Ophthalmic manifestations of tuberous sclerosis: a review

2016; Wiley; Volume: 45; Issue: 1 Linguagem: Inglês

10.1111/ceo.12806

1442-9071

Nickisa Hodgson, Michael Kinori, Michael H. Goldbaum, Shira L. Robbins,

Genetic and Kidney Cyst Diseases

Abstract Tuberous sclerosis or tuberous sclerosis complex (TSC), one of the phakomatoses, is characterized by hamartomas of the heart, kidney, brain, skin and eyes. Ophthalmologic examinations are required in all cases of TSC. Retinal hamartomas are the most common ocular finding in tuberous sclerosis. The majority of hamartomas are non‐progressive; however, lesions with subretinal fluid and progression have been reported. This paper details the genetics, clinical features and ocular findings of TSC and reviews potential therapeutic options for ophthalmic manifestations.