retinal macular dystrophy 2

info · Genetic

A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32.

Signs and symptoms

Granular macular appearance
Dyschromatopsia
Reduced visual acuity
Perifoveal ring of hyperautofluorescence
Central scotoma
Macular dystrophy
Retinal pigment epithelial atrophy

Also known as: MCDR2