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.
Tang Miao, Li Zijing, Ding Xiaoyan
Cite as Chin J Exp Ophthalmol, 2016,34(6): 558-561.
Familial exudative vitreoretinopathy; Eye diseases/genetics; Wnt signaling pathway; Angiogenesis
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China
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