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Ophthalmic manifestations of tuberous sclerosis: a review
Author(s) -
Hodgson Nickisa,
Kinori Michael,
Goldbaum Michael H,
Robbins Shira L
Publication year - 2016
Publication title -
clinical and experimental ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.3
H-Index - 74
eISSN - 1442-9071
pISSN - 1442-6404
DOI - 10.1111/ceo.12806
Subject(s) - tuberous sclerosis , medicine , multiple sclerosis , dermatology , pathology , psychiatry
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.