- Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu 610041, China;
Lu Fang,
Email: lufang@wchscu.cn
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.
Citation： Yang Yiliu, Lu Fang. Research progresses on pathogenic genes and related signal pathways of familial exudative vitreoretinopathy. Chinese Journal of Ocular Fundus Diseases, 2023, 39(7): 594-599. doi: 10.3760/cma.j.cn511434-20221102-00572 Copy
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