cone-rod dystrophy 18

A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15.

Signs and symptoms

• Reduced visual acuity
• High myopia
• Cone/cone-rod dystrophy
• Foveal hyperpigmentation
• Central scotoma
• Foveal atrophy

Also known as: CORD18