当前位置:
X-MOL 学术
›
Exp. Eye Res.
›
论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Molecular genetics of congenital cataracts.
Experimental Eye Research ( IF 3.4 ) Pub Date : 2019-11-23 , DOI: 10.1016/j.exer.2019.107872 Jinyu Li 1 , Xiangjun Chen 1 , Yongbin Yan 2 , Ke Yao 1
Experimental Eye Research ( IF 3.4 ) Pub Date : 2019-11-23 , DOI: 10.1016/j.exer.2019.107872 Jinyu Li 1 , Xiangjun Chen 1 , Yongbin Yan 2 , Ke Yao 1
Affiliation
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.
中文翻译:
先天性白内障的分子遗传学。
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,约四分之一的先天性白内障是由遗传缺陷引起的。迄今为止,已经在遗传性白内障中鉴定出了一百多个基因的各种突变。在这篇综述中,我们简要总结了有关遗传,分子机制和先天性白内障治疗的最新进展。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,诊断和治疗方法提供了新的见识。
更新日期:2019-11-26
中文翻译:
先天性白内障的分子遗传学。
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,约四分之一的先天性白内障是由遗传缺陷引起的。迄今为止,已经在遗传性白内障中鉴定出了一百多个基因的各种突变。在这篇综述中,我们简要总结了有关遗传,分子机制和先天性白内障治疗的最新进展。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,诊断和治疗方法提供了新的见识。