Research progresses on pathogenic genes and related signal pathways of familial exudative vitreoretinopathy

VernacularTitle:家族性渗出性玻璃体视网膜病变的致病基因与相关信号通路研究进展
Author: Yiliu YANG ¹ ; Fang LU
Author Information

1. 四川大学华西医院眼科,　成都　610041
Keywords: Familial exudative vitreoretinopathy; Wnt signaling; Retinal angiopathy; Review
From: Chinese Journal of Ocular Fundus Diseases 2023;39(7):594-599
CountryChina
Language:Chinese
Abstract: Familial exudative vitreoretinopathy (FEVR) is a serious hereditary retinal vascular disease. The clinical manifestations vary, and the severity of the patients' condition is different. In severe cases, it may lead to bilateral blindness. The pathogenic mechanism of FEVR is also complex. At present, more than ten classical and candidate pathogenic genes have been found: NDP, FZD4, LRP5, TSPAN12, CTNNB1, KIF11, ZNF408, RCBTB1, LRP6, CTNNA1, CTNND1, JAG1, ATOH7, DLG1, DOCK6, ARHGP31 and EVR3 region. These pathogenic genes are involved in Wnt/β-catenin signaling pathway, norrin/β-catenin pathway and Notch pathway. They regulate and affect the development of retinal blood vessels, hyaloid vascular system regression, endothelial cell connections, and blood retinal barrier homeostasis, ultimately leading to the occurrence and development of FEVR disease.