Familial exudative vitreoretinopathy is an inherited disorder characterized by incomplete development of retinal vascularization. The clinical presentation is the result of defective retinal angiogenesis. The phenotype varies depending on the degree and extent of retinal ischemia caused, neovascularization, hyperpermeability of blood vessels, vitreoretinal traction, and retinal detachments suffered as a consequence.
Through ClientSite you can filter variants and download your reports