In this study, we systematically screened nine reported FEVR disease‐associated genes (LRP5, FZD4, TSPAN12, NDP, KIF11, ZNF408, RCBTB1, JAG1, and CTNNA1) in a cohort of 74 Chinese probands and their available family members. The gene discussed is TSPAN12; the disease is Familial exudative vitreoretinopathy.