North Carolina macular dystrophy
North Carolina macular dystrophy
Definition
North Carolina macular dystrophy (NCMD) is a non-progressive autosomal dominant macular disorder of congenital or infantile onset characterized by loss of central vision, the accumulation of drusen in the macula and atrophy of photoreceptor cells with a variable phenotype at macular examination.
Also known as CAPE dystrophy, CAPED, central areolar pigment epithelial dystrophy, central retinal pigment epithelial dystrophy, macular dystrophy 1, North Carolina type, MCDR1, NCMD, North Carolina macular dystrophy, North Carolina macular dystrophy, retinal 1, progressive foveal dystrophy — per MONDO