4.5 Article

Molecular genetics of congenital cataracts

Journal

EXPERIMENTAL EYE RESEARCH
Volume 191, Issue -, Pages -

Publisher

ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.exer.2019.107872

Keywords

Congenital cataracts; Inherited cataracts; Genetics; Molecular mechanisms; Cataractogenesis

Categories

Funding

  1. Program of National Natural Science Foundation of China [81570822, 81870641, 81700816]
  2. Zhejiang Province Key Research and Development Program [2015C03042]
  3. Medical science and technology project of Zhejiang Province [2017209519]

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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.

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