Duong Thu Trang, Nguyen Minh Phu, Do Manh Hung, Vu Phuong Nhung, Nguyen Ngan Ha, Ma Thi Huyen Thuong, Tran Thi Bich Ngoc, Nguyen Xuan Hiep, Nguyen Dang Ton, Nong Van Hai, Nguyen Hai Ha
BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder marked by incomplete retinal vascularization associated with exudation, neovascularization, and tractional retinal detachment. FEVR is genetically heterogeneous and is caused by variants in six genes: FZD4, LRP5, NDP, TSPAN12, ZNF408, and CTNNB1. In addition, the phenotypic overlap between FEVR and other disorders has been reported in patients harboring variants in other genes, such as KIF11, ATOH7 , and RCBTB1 ...
2022: Molecular Vision