结节性硬化症的眼部表现：综述
Ophthalmic manifestations of tuberous sclerosis: a review.
作者信息
Hodgson Nickisa, Kinori Michael, Goldbaum Michael H, Robbins Shira L
机构信息
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.
出版信息
Clin Exp Ophthalmol. 2017 Jan;45(1):81-86. doi: 10.1111/ceo.12806. Epub 2016 Sep 15.
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.
结节性硬化症或结节性硬化症复合体（TSC）是一种错构瘤病，其特征为心脏、肾脏、脑、皮肤和眼睛出现错构瘤。所有TSC病例均需进行眼科检查。视网膜错构瘤是结节性硬化症最常见的眼部表现。大多数错构瘤不会进展；然而，已有报道称存在伴有视网膜下液和进展的病变。本文详细介绍了TSC的遗传学、临床特征和眼部表现，并综述了针对眼部表现的潜在治疗选择。
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