X 连锁性视网膜劈裂症伴闭角型青光眼的罕见表型的分子特征。

Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.

机构信息

Dr Rajendra Prasad Centre for Ophthalmic Sciences, Laboratory of Cuto-Molecular Genetics, All India Institute of Medical Sciences, New Delhi, India.

Department of Anatomy, Laboratory of Cuto-Molecular Genetics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Ophthalmol. 2019 Jul;67(7):1226-1229. doi: 10.4103/ijo.IJO_1407_18.

DOI:10.4103/ijo.IJO_1407_18

PMID:31238476

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6611297/

Abstract

A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a milder form of XLRS with shallow anterior chamber. Topical dorzolamide 2% and timolol 0.5% were used to control intraocular pressure. Genetic analysis revealed a novel three base pair deleterious mutation (c. 375_377 del AGA) in exon-5 of the RS1 gene in three members of the family.

摘要

一位 11 岁男孩因视力模糊就诊，经评估发现患有 X 连锁性视网膜劈裂症（XLRS）合并闭角型青光眼。对一级亲属进行了临床和遗传评估。他的哥哥患有更轻微的 XLRS，伴有浅前房。局部使用多佐胺 2%和噻吗洛尔 0.5%控制眼压。基因分析显示该家族的 3 名成员的 RS1 基因第 5 外显子存在一个新的 3 个碱基缺失有害突变（c.375_377delAGA）。