Research progress on genetics of familial exudative vitreoretinopathy

Tang Miao,  Li Zijing,  Ding Xiaoyan
DOI: 10.3760/cma.j.issn.2095-0160.2016.06.017
Published 2016-06-10
Cite as Chin J Exp Ophthalmol, 2016,34(6): 558-561.

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 FZD4LRP5NDPTSPAN12 and ZNF408, which were associated with autosomal dominant (AD), autosomal recessive and X-linked recessive FEVR.FZD4LRP5 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.

Key words:

Familial exudative vitreoretinopathy; Eye diseases/genetics; Wnt signaling pathway; Angiogenesis

Contributor Information

Tang Miao
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China
Li Zijing
Ding Xiaoyan
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Updated: October 8, 2019 — 7:29 am