Molecular genetics of congenital cataracts

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...

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Bibliographic Details
Published in:Experimental eye research 2020-02, Vol.191, p.107872-107872, Article 107872
Main Authors: Li, Jinyu, Chen, Xiangjun, Yan, Yongbin, Yao, Ke
Format: Article
Language:English
Subjects:
Cataractogenesis
Congenital cataracts
Genetics
Inherited cataracts
Molecular mechanisms
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Summary: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. •Congenital cataracts represent the leading cause of visual disability in childhood.•Genetic researches identified various mutations of associated genes acting through varied mechanisms in inherited cataract.•Future studies in lens regeneration and anti-aggregation drugs may provide new insights into treatment of congenital cataract.
ISSN:0014-4835
1096-0007
DOI:10.1016/j.exer.2019.107872