Familial Exudative Vitreoretinopathy.

摘要: Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute FEVR. FEVR has reported X-linked recessive, autosomal dominant, recessive inheritances. However, both genotypic phenotypic features are variable. Novel mutations contributing reported. The earliest most prominent finding of avascularity peripheral retina. As progresses, retinal neovascularization, subretinal exudation, partial total detachment may occur, which be certain mutations. With early diagnosis prompt management loss can prevented laser photocoagulation anti-VEGF injections. In case detachment, pars plana vitrectomy alone or combined scleral buckling should considered. Identifying asymptomatic family members various degrees insidious findings importance. Wide-field imaging fluorescein angiography crucial this disease. differential includes other vitreoretinopathies such as Norrie disease, retinopathy prematurity, Coats'