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。

IF 1.2 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos Pub Date : 2024-09-18 DOI:10.1016/j.jaapos.2024.104006

Baskar Panirsheeluam, Shuaibah Abd Ghani, Mohamad Israk Mohamad Isa, Sheena Mary Alexander, Jemaima Che Hamzah, Teck Chee Cheng, Kwok Hoong Chan

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引用次数: 0

摘要

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。

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

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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来源期刊

Journal of Aapos 医学-小儿科

CiteScore

2.40

自引率

12.50%

发文量

159

审稿时长

55 days

期刊介绍： Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.