Familial Exudative Vitreoretinopathy

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a hereditary disease associated with visual loss, particularly in the pediatric group. Mutations in the NDP, FZD4, LRP5, and TSPAN12 genes have been shown to contribute to FEVR. FEVR has been reported to have X-linked recessive, autosomal dominant, and autosomal recessive inheritances. However, both the genotypic and phenotypic features are variable. Novel mutations...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Neurological diseases and metabolism
• Share to Retinal and Macular Surgery
• Share to Ubiquitin and proteasome pathways