title: Ophthalmic manifestations of tuberous sclerosis: a review.
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.
authors.affiliation: Department of Ophthalmology, Ratner Children's Eye Center of the Shiley Eye Institute, University of California, San Diego, California, USA.|Department of Ophthalmology, Jacobs Retina Center of the Shiley Eye Institute, University of California, San Diego, California, USA.
authors.forename: Nickisa
authors.initials: N
authors.lastname: Hodgson
authors.affiliation: Department of Ophthalmology, Ratner Children's Eye Center of the Shiley Eye Institute, University of California, San Diego, California, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Kinori
authors.affiliation: Department of Ophthalmology, Jacobs Retina Center of the Shiley Eye Institute, University of California, San Diego, California, USA.
authors.forename: Michael H
authors.initials: MH
authors.lastname: Goldbaum
authors.affiliation: Department of Ophthalmology, Ratner Children's Eye Center of the Shiley Eye Institute, University of California, San Diego, California, USA.
authors.forename: Shira L
authors.initials: SL
authors.lastname: Robbins
mesh_terms: D005128:Eye Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000209:etiology; D014943:Global Health; D006801:Humans; D015994:Incidence; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis
keywords: ophthalmic; review; tuberous sclerosis