Research progress on genetics of familial exudative vitreoretinopathy / 中华实验眼科杂志

ABSTRACT

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.