Research progress on pathogenic genes of familial exudative vitreoretinopathy

Abstract:

Familial exudative vitreoretinopathy(FEVR)is a severe clinically and genetically heterogeneous retinal disease which characterized by abnormal development of the peripheral retinal vessels. FEVR presents many clinical phenotypes, the main and typical feature is retinal folds. There are various inheritance modes with high genetic heterogeneity of FEVR including autosomal recessive, X-recessive, autosomal dominant recessive, and other scattered inheritance modes. So far, nine FEVR pathogenic genes have been reported: NDP, FZD4, LRP5, CTNNA1, TSPAN12, ZNF408, KIF11, CTNNB1, and JAG1 genes. These genes are mainly involved in signaling pathways such as Wnt, Notch, and Norrin-β-catenin. This article reviews the above nine FEVR pathogenic genes and their signaling pathways.

Key words:familial exudative vitreoretinopathy; genetics; pathogenic genes