Familial exudative vitreoretinopathy (FEVR) is a severe inherited vitreoretinal disorder. Recently, mutations in genes encoding frizzled 4 (FZD4), low density lipoprotein receptor-related protein 5 (LRP5), norrie disease protein (NDP), tetraspanin 12 (TSPAN12), zinc fmger protein 408 (ZNF408), kinesin family member 11 (KIF11) have so far been identified to cause FEVR. The former four genes have been shown to participate in the Wnt and Norrin-β-catenin signal pathway, which perform a crucial role for this pathway in ocular and vascular development. The primary clinical feature of FEVR is incomplete retinal vascular development on the temporal side of the peripheral retina, with or without abnormal retinal vascular differentiation. The clinical manifestations of this disease differ greatly among patients, from asymptomatic to complete retinal detachments with blindness. Fundus angiography and genetic screening are the main diagnostic methods for this disease and the early screening is extremely important in the treatment and prognosis. The progress can be controlled by laser treatment at the initial stage. Scleral buckling surgery and vitrectomy can be performed with advanced retinal detachment, but the prognosis is poor. The effect of anti-vascular endothelial growth factor drugs on new blood vessels may play a certain role in its treatment. With the in-depth study of pathogenesis, selective targeted treatment of FEVR pathogenic genes will become a new direction of treatment for some kinds of phenotype. This article reviews the recent advances of FEVR.