Diagnosis and management of familial exudative vitreoretinopathy

Familial exudative vitreoretinopathy(FEVR)is a rare inherited disorder of retinal angiogenesis. It is characterized by avascular peripheral retina. Mutations in FZD4, NDP, LRP5, TSPAN12, ZNF408, KIF11 have been found the causation genes of FEVR. The phenotypic features are variable, when some patients are asymptomatic while some may suffer from neovascularization, exudation, hemorrhage, retinal folds and retinal detachment. The use of FFA can help to identify the disease in the earlier stage, enabling timely treatment. The current treatments include laser photocoagulation, scleral buckling, vitrectomy and intravitreal anti-VEGF injections as an adjunctive therapy before surgery. With the development of genome research on this disease, the more effective diagnosis and treatments would be available.