CAPN5-related vitreoretinopathy
CAPN5-related vitreoretinopathy
Definition
An autosomal dominant vitreoretinopathy caused by variants in the CAPN5 gene. Additional features, such as developmental delay and hypotonia, have been reported in some patients.
Also known as ADNIV, autosomal dominant neovascular inflammatory vitreoretinopathy, CAPN5 vitreoretinopathy, retinitis proliferans, vitreoretinopathy, neovascular inflammatory, vitreoretinopathy, neovascular inflammatory, autosomal dominant, VRNI — per MONDO