North Carolina macular dystrophy

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

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.

Signs and symptoms

• Reduced visual acuity
• Macular dystrophy
• Peripheral retinal atrophy
• Abnormal macular pigmentation
• Drusen
• Central scotoma
• Dyschromatopsia

Also known as: MCDR1; NCMD; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; progressive foveal dystrophy