[Familial exudative vitreoretinopathy]

Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant inherited disease with a penetrance of nearly 100% and is mostly found in Asia. The most important sign is a temporal avascular retina with pathologically changed vessels combined with a temporal dragging of the disk and a heterotopy of the macula. In contrast to retinopathy of prematurity, only full-term children without oxygen therapy are affected. Clinical severity is highly variable. A stage of an asymptomatic gene carrier with peripheral ischemia only visible on angiography up to a massive deterioration of vision because of a combined tractional and rhegmatogenous retinal detachment is possible. All stages with intra- or subretinal exudates require therapy. First-line therapy is the coagulation of the leaky vessels to reduce the exudation. In addition cryocoagulation is possible. Advanced stages with complex retinal detachments usually require a vitrectomy to prevent further loss of visual function.