Exudative Vitreoretinopathy (EVR)

aka. Familial Exudative Vitreoretinopathy (FEVR) A disorder characterized by incomplete development of retinal vasculature. There is a wide variety of clinical appearances and severity but the pathology is the result of retinal ischemia. The disease is characterized by the development of hyper permeable blood vessels, neovascularization, vitreoretinal traction, retinal folds and retinal detachments. ===== Types ===== * Type 1 - Criswick-Schepens Syndrome * Autosomal Dominant * Gene: FZD4 * Chromosome: 11q14.2 * ===== Genetics ===== * Autosomal Dominant Mutations * FZD4 * LRP5 - OMIM entry * Autosomal Recessive Mutations * LRP5 * X-linked Recessive Mutations * NDP gene ===== Resources ===== * Autosomal dominant exudative vitreoretinopathy. Ober et al. 1980