Molecular genetics of congenital cataracts

Jinyu Li; Xiangjun Chen; Yongbin Yan; Ke Yao

doi:10.1016/j.exer.2019.107872

Molecular genetics of congenital cataracts

Exp Eye Res. 2020 Feb:191:107872. doi: 10.1016/j.exer.2019.107872. Epub 2019 Nov 23.

Authors

Jinyu Li¹, Xiangjun Chen¹, Yongbin Yan², Ke Yao³

Affiliations

¹ Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310009, China; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou, Zhejiang, 310009, China.
² State Key Laboratory of Membrane Biology, School of Life Sciences, Tsinghua University, Beijing, 100084, China.
³ Eye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, 310009, China; Key Laboratory of Ophthalmology of Zhejiang Province, Hangzhou, Zhejiang, 310009, China. Electronic address: xlren@zju.edu.cn.

PMID: 31770519
DOI: 10.1016/j.exer.2019.107872

Abstract

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.

Keywords: Cataractogenesis; Congenital cataracts; Genetics; Inherited cataracts; Molecular mechanisms.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Cataract / congenital*
Cataract / genetics*
Humans
Lens, Crystalline / embryology
Molecular Biology*