Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia

被引：6

作者：

Shimizu, Kayo ^{[1
]}

Oishi, Akio ^{[1
]}

Oishi, Maho ^{[1
]}

Ogino, Ken ^{[1
]}

Morooka, Satoshi ^{[1
]}

Sugahara, Masako ^{[1
]}

Gotoh, Norimoto ^{[2
]}

Yoshimura, Nagahisa ^{[1
]}

机构：

[1] Kyoto Univ, Grad Sch Med, Dept Ophthalmol & Visual Sci, Sakyo Ku, 54 Shougoin, Kyoto 6068507, Japan

[2] Kyoto Univ, Grad Sch Med, Ctr Genom Med Univ, Kyoto, Japan

来源：

CASE REPORTS IN OPHTHALMOLOGY | 2015年 / 6卷 / 02期

基金：

日本学术振兴会;

关键词：

Choroideremia; Next-generation sequencing; Diagnosis; Utility;

D O I：

10.1159/000437348

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

We screened patients with choroideremia using next-generation sequencing (NGS) and identified a novel mutation and a known mutation in the CHM gene. One patient presented an atypical fundus appearance for choroideremia. Another patient presented macular hole retinal detachment in the left eye. The present case series shows the utility of NGS-based screening in patients with choroideremia. In addition, the presence of macular hole in 1 of the 2 patients, together with a previous report, indicated the susceptibility of patients with choroideremia to macular hole. (C) 2015 S. Karger AG, Basel

引用

页码：246 / 250

页数：5

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