Previous studies have demonstrated that NDP, FZD4, LRP5 and TSPAN12 responsible for FEVR are in the NORRIN/β-catenin signalling pathway and that the FEVR disease is caused by mutations of components in this pathway and ZNF40819, 23, 24, 25. Here, TSPAN12 is linked to Familial exudative vitreoretinopathy.