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Article

Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.

The British journal of ophthalmology - 1 Mar 2023

Xiao Sainan, Sun Wenmin, Xiao Xueshan, Li Shiqiang, Luo Hualei, Jia Xiaoyun, Ouyang Jiamin, Li Xueqing, Wang Yingwei, Jiang Yi, Wang Panfeng, Zhang Qingjiong

Abstract excerpt

BACKGROUND/AIMS: X-linked retinoschisis (XLRS), associated with RS1, is the most common type of X-linked retinopathy in children. This study aimed to identify clinical and genetic features of retinoschisis in 120 families with RS1 variants in China. METHODS: RS1 variants were collected from our in-house exome data and were predicted by multiple-step bioinformatics analysis. Clinical data of 122 patients from 120...

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PMID: 34645606
DOI: 10.1136/bjophthalmol-2021-319668

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