Developments in Ocular Genetics: 2013 Annual Review.
Developments in Ocular Genetics: 2013 Annual Review.
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DOI：
10.1097/apo.0000000000000063
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发表时间：
2014-05
期刊：
影响因子：
--
通讯作者：
Allingham RR
中科院分区：
文献类型：
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作者：
Aboobakar IF;Allingham RR
强调 2013 年以来眼遗传学的重大进展。文献综述。在 PubMed 上进行了文献检索，以查找有关遗传对人类眼部疾病影响的文章。本次审查重点关注2013年1月1日至2013年12月31日期间以印刷版或在线形式发表的英文手稿。本次审查共收录了2013年的120篇论文。我们对一系列眼部疾病的遗传基础的理解取得了重大进展，包括青光眼、年龄相关性黄斑变性、白内障、糖尿病性视网膜病变、圆锥角膜、福克斯内皮营养不良和屈光不正。最新的下一代测序技术已成为识别与眼部疾病相关的基因突变的极其有效的工具。这些技术进步也为遗传信息在临床实践中的利用铺平了道路，包括疾病诊断、治疗反应预测和基于基因知识指导的分子干预。
To highlight major advancements in ocular genetics from the year 2013. Literature review. A literature search was conducted on PubMed to identify articles pertaining to genetic influences on human eye diseases. This review focuses on manuscripts published in print or online in the English language between January 1, 2013 and December 31, 2013. A total of 120 papers from 2013 were included in this review. Significant progress has been made in our understanding of the genetic basis of a broad group of ocular disorders, including glaucoma, age-related macular degeneration, cataract, diabetic retinopathy, keratoconus, Fuchs’ endothelial dystrophy, and refractive error. The latest next-generation sequencing technologies have become extremely effective tools for identifying gene mutations associated with ocular disease. These technological advancements have also paved the way for utilization of genetic information in clinical practice, including disease diagnosis, prediction of treatment response and molecular interventions guided by gene-based knowledge.