Advances in the genetics of familial exudative vitreoretinopathy / 中华眼底病杂志

ABSTRACT

Familial exudative vitreoretinopathy (FEVR) is a hereditary disease with high geneticheterogeneity,including autosomal dominant inheritance,autosomal recessive inheritance,snd X-linked recessive inheritance.So far,six genes have been found to be associated with FEVRWnt receptor fizzled protein (FZD4),Norrie disease (NDP),co-receptor low-densitylipoprotein receptor-related protein 5 (LRP5),and tetrasin 12 (TSPANI2),zinc finger protein408 (ZNF408),kinesin family member 11 (KIF11) gene.Among them,FZD4,NDP,LRPS,TSPANI2 and other four genes play an important role in the Norrin/Frizzled 4 signaling pathway.In retinal capillary endothelial cells,Norrin specifically controls the occurrence of ocular capillaries by activating the Norrin/Frizzled 4 signaling pathway.ZNT408 and KIF11 are newly discovered pathogenic genes related to FEVR in the past 5 years.ZNF408 encodes the transcription factor that plays an important role in retinal angiogenesis.KIF 11 plays a role in eye development and maintenance of retinal morphology and function.