Ophthalmic manifestations of tuberous sclerosis: a review

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

doi:10.1111/ceo.12806

Ophthalmic manifestations of tuberous sclerosis: a review

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

^*Corresponding author for this work

University of California at San Diego

Research output: Contribution to journal › Review article › peer-review

47 Scopus citations

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.

Original language	English
Pages (from-to)	81-86
Number of pages	6
Journal	Clinical and Experimental Ophthalmology
Volume	45
Issue number	1
DOIs	https://doi.org/10.1111/ceo.12806
State	Published - 1 Jan 2017
Externally published	Yes

Keywords

ophthalmic
review
tuberous sclerosis

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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.",

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N2 - 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.

AB - 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.

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Ophthalmic manifestations of tuberous sclerosis: a review

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