Term Name:	North Carolina macular dystrophy
Synonyms:	central areolar pigment epithelial dystrophy, central retinal pigment epithelial dystrophy, MCDR1, NCMD, progressive foveal dystrophy, retinal macular dystrophy 1
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.
Ontology:	Human Disease [DOID:0070439]   ( DOID:0070439 )