cone-rod dystrophy 12

A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15.

Signs and symptoms

• Nyctalopia
• Color vision defect
• Abnormal light- and dark-adapted electroretinogram
• Reduced visual acuity
• Cone/cone-rod dystrophy
• Central scotoma
• Bull's eye maculopathy

Also known as: CORD12