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Familial exudative vitreoretinopathy

From SNPedia

Familial exudative vitreoretinopathy, also known as FEVR, is an inherited disorder caused by incomplete blood supply development to the retina. Although the absence of vasculature in the peripheral retina is the key (asymptomatic) diagnostic criteria for FEVR, only a subset of patients develop the potentially blinding secondary complications such as retinal detachment. Many individuals carrying FEVR mutations are unaware they have the condition, while others can lose sight as children; FEVR has an very wide range of phenotypic variability.[PMID 28575650]

Genetically FEVR can be due to dominant, recessive or X-linked mutations in at least nine genes as follows, 90% of patients have a mutation in one of the first four: