Article
Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
Molecular vision - 1 Jan 2014
Chen Jieqiong, Xu Ke, Zhang Xiaohui, Pan Zhe, Dong Bing, Li Yang
Abstract excerpt
PURPOSE: X-linked retinoschisis is a retinal dystrophy caused by mutations in the RS1 gene in Xp22.1. These mutations lead to schisis (splitting) of the neural retina and subsequent reduction in visual acuity in affected men (OMIM # 312700). The aim of this study was to identify the RS1 gene mutations in a cohort of Chinese patients with X-linked retinoschisis, and to describe the associated phenotypes. METHODS:...
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