先天性晶状体脱位致病基因研究进展

Research progress on molecular genetics of congenital ectopic lentis

先天性晶状体脱位是由于先天发育异常导致晶状体悬韧带部分或全部缺损离断,引起对晶状体的悬挂力量不平衡或丧失,从而导致晶状体离开正常生理位置的一种结缔组织疾病,具有明显的遗传倾向。近年来对于分子病因学的探究使得我们进一步了解了先天性晶状体脱位的发病机制,本文对于与先天性晶状体脱位相关的突变基因进行归纳总结,为指导临床诊断与治疗提供一定参考依据。

Congenital ectopic lentis is defined as a kind of connective tissue disease with obvious genetic predisposition that lens dislocates caused by imbalance of the traction of lens as a result of zonular fiber defect or dysplasia.We get further understanding of the molecular etiology and nosogenesis of congenital ectopic lentis under guidance of scientific research in recent years.Main suspicious disease-causing genes will be reviewed in this paper to provide reference for clinical diagnosis and treatment.