North Carolina macular dystrophy (DOID:0070439)
Alliance: disease page
Synonyms: central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; MCDR1; NCMD; progressive foveal dystrophy; retinal macular dystrophy 1
Alt IDs: OMIM:136550, MESH:C537835, NCI:C168999, ORDO:75327, UMLS_CUI:C0730294
Definition: A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene.