cone-rod dystrophy 13

A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2.

Signs and symptoms

• Constriction of peripheral visual field
• Abnormal fundus pigmentation
• Hypermetropia
• Photophobia
• Reduced visual acuity
• Abnormal electroretinogram
• Color vision defect
• Progressive visual loss
• Macular degeneration
• Myopia

Also known as: CORD13