Molecular genetics of congenital cataracts
Molecular genetics of congenital cataracts
复制标题
先天性白内障的分子遗传学
DOI：
10.1016/j.exer.2019.107872
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发表时间：
2020-02-01
影响因子：
3.4
通讯作者：
Yao, Ke
中科院分区：
文献类型：
--
作者：
Li, Jinyu;Chen, Xiangjun;Yao, Ke
先天性白内障是全世界儿童视力障碍和失明的最常见原因，其病因多种多样。据统计分析，约有四分之一的先天性白内障是由遗传缺陷引起的。到目前为止，在遗传性白内障中已经发现了一百多个基因的各种突变。本文就先天性白内障的遗传学、分子机制和治疗方法作一综述。对这些致病突变和分子遗传学的研究使我们有可能了解白内障发生的潜在机制，并为白内障的预防、诊断和治疗提供新的见解。
Congenital cataracts, the most common cause of visual impairment and blindness in children worldwide, have diverse etiologies. According to statistics analysis, about one quarter of congenital cataracts caused by genetic defects. Various mutations of more than one hundred genes have been identified in hereditary cataracts so far. In this review, we briefly summarize recent developments about the genetics, molecular mechanisms, and treatments of congenital cataracts. The studies of these pathogenic mutations and molecular genetics is making it possible for us to comprehend the underlying mechanisms of cataractogenesis and providing new insights into the preventive, diagnostic and therapeutic approaches of cataracts.