Family of juvenile X-linked retinoschisis with varied presentation: a case series with RS1 genetic analysis

IF 16.4 1区化学 Q1 CHEMISTRY, MULTIDISCIPLINARY

Accounts of Chemical Research Pub Date : 2024-10-01 DOI:10.1016/j.jaapos.2024.104006

Baskar Panirsheeluam MD , Shuaibah Abd Ghani M Med (Ophthal) , Mohamad Israk Mohamad Isa MS (Ophthal) , Sheena Mary Alexander MOphthal , Jemaima Che Hamzah PhD , Cheng Teck Chee Dr Ophthal , Chan Kwok Hoong MBBS

引用次数: 0

Abstract

RS1 gene mutations are known to be a direct cause of the hereditary retinopathy known as retinoschisis. We describe a group of 3 siblings with the same RS1 gene mutation who presented with different retinopathy phenotypes. Genetic testing confirmed the RS1 genotypes. Clinical ophthalmoscopy, color fundus photography, optical coherence tomography, and fundus fluorescein angiography identified manifestations of Coats-like exudative vitreoretinopathy, retinal detachment, and retinoschisis.

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表现各异的幼年 X 连锁视网膜裂伤家族：结合 RS1 基因分析的系列病例。

众所周知，RS1 基因突变是导致遗传性视网膜病变（即视网膜裂孔症）的直接原因。我们描述了一组具有相同 RS1 基因突变的 3 个兄弟姐妹，他们表现出不同的视网膜病变表型。基因检测证实了 RS1 基因型。临床眼底镜检查、彩色眼底照相术、光学相干断层扫描和眼底荧光素血管造影术确定了高士样渗出性玻璃体视网膜病变、视网膜脱离和视网膜裂孔症的表现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Accounts of Chemical Research 化学-化学综合

CiteScore

31.40

自引率

1.10%

发文量

312

审稿时长

2 months

期刊介绍： Accounts of Chemical Research presents short, concise and critical articles offering easy-to-read overviews of basic research and applications in all areas of chemistry and biochemistry. These short reviews focus on research from the author’s own laboratory and are designed to teach the reader about a research project. In addition, Accounts of Chemical Research publishes commentaries that give an informed opinion on a current research problem. Special Issues online are devoted to a single topic of unusual activity and significance. Accounts of Chemical Research replaces the traditional article abstract with an article "Conspectus." These entries synopsize the research affording the reader a closer look at the content and significance of an article. Through this provision of a more detailed description of the article contents, the Conspectus enhances the article's discoverability by search engines and the exposure for the research.