家族性渗出性玻璃体视网膜病变基因研究进展

Research progress on genetics of familial exudative vitreoretinopathy

家族性渗出性玻璃体视网膜病变（FEVR）是以周边视网膜血管发育异常或不发育为特征的遗传性视网膜血管疾病,临床表现多样,遗传异质性明显.近年来发现数种与FEVR相关的致病基因,包括FZD4、LRP5、TSPAN12、NDP和ZNF408,致常染色体隐性遗传、常染色体显性遗传及X染色体连锁隐性遗传.FZD4编码卷曲蛋白4,与LRP5及TSPAN12蛋白组成受体复合物,结合Wnt或NDP编码的Norrin蛋白,参与活化典型Wnt或Norrin通路,在视网膜血管发育中起重要作用.ZNF408编码锌指蛋白,致常染色体显性遗传FEVR.本文就FEVR基因研究进展进行综述.

Familial exudative vitreoretinopathy （FEVR） is an inherited retinal disorder characterized by abnormal vascularization of the peripheral retina with a variety of phenotypes.Genetic analyses have identified five causative genes,including FZD4,LRP5,NDP,TSPAN12 and ZNF408,which were associated with autosomal dominant （AD）,autosomal recessive and X-linked recessive FEVR.FZD4,LRP5 and TSPAN12 are key genes in classical Wnt pathway,which plays an important role in retinal angiogenesis.FZD4 encodes FZD4 protein that forms a receptor complex with LRP5 and TSPAN12.The complex binds with Wnt ligand or Norrin,encoding by NDP,to active Wnt/Norrin signaling network.ZNF408 encodes zinc finger protein,which is associated with AD FEVR.The current review provided a comprehensive summary of the genes involved in FEVR.