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基于下一代测序技术的无脉络膜症分子诊断

Next-Generation Sequencing-Based Molecular Diagnosis of Choroideremia.

作者信息

Shimizu Kayo, Oishi Akio, Oishi Maho, Ogino Ken, Morooka Satoshi, Sugahara Masako, Gotoh Norimoto, Yoshimura Nagahisa

机构信息

Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.

出版信息

Case Rep Ophthalmol. 2015 Jul 25;6(2):246-50. doi: 10.1159/000437348. eCollection 2015 May-Aug.

DOI:10.1159/000437348
PMID:26327910
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4553918/
Abstract

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.

摘要

我们使用下一代测序（NGS）技术对脉络膜视网膜病变患者进行了筛查，并在CHM基因中鉴定出一个新突变和一个已知突变。一名患者表现出脉络膜视网膜病变的非典型眼底外观。另一名患者左眼出现黄斑裂孔性视网膜脱离。本病例系列显示了基于NGS的筛查在脉络膜视网膜病变患者中的实用性。此外，两名患者中有一名出现黄斑裂孔，结合之前的一份报告，表明脉络膜视网膜病变患者易患黄斑裂孔。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c90/4553918/76b1a55962c4/cop-0006-0246-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c90/4553918/9d1c2d0cec12/cop-0006-0246-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c90/4553918/76b1a55962c4/cop-0006-0246-g02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c90/4553918/9d1c2d0cec12/cop-0006-0246-g01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8c90/4553918/76b1a55962c4/cop-0006-0246-g02.jpg

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本文引用的文献

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Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.通过下一代测序对大量日本视网膜色素变性和Usher综合征患者进行综合分子诊断。
Invest Ophthalmol Vis Sci. 2014 Oct 16;55(11):7369-75. doi: 10.1167/iovs.14-15458.
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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.脉络膜视网膜炎患者的视网膜基因治疗：1/2 期临床试验的初步结果。
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Choroideremia: a review of general findings and pathogenesis.无脉络膜症：一般研究结果与发病机制综述
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Clinical findings in a choroideremia patient who underwent vitrectomy for retinal detachment associated with macular hole.
Jpn J Ophthalmol. 2011 Mar;55(2):169-71. doi: 10.1007/s10384-010-0911-0. Epub 2011 Mar 13.
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Macular abnormalities in patients with retinitis pigmentosa: prevalence on OCT examination and outcomes of vitreoretinal surgery.色素性视网膜炎患者的黄斑异常：OCT 检查的患病率和玻璃体视网膜手术的结果。
Acta Ophthalmol. 2011 Mar;89(2):e122-5. doi: 10.1111/j.1755-3768.2010.01866.x.
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Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.用于莱伯先天性黑蒙的人RPE65基因疗法：早期视力改善的持续性及1年安全性
Hum Gene Ther. 2009 Sep;20(9):999-1004. doi: 10.1089/hum.2009.086.
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Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.常染色体隐性遗传性视锥视杆营养不良和视网膜色素变性中ABCA4（ABCR）基因的基于微阵列的突变分析。
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