cone-rod dystrophy 5

A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1.

Signs and symptoms

• Retinal pigment epithelial mottling
• Color vision defect
• Macular degeneration
• Photophobia
• Reduced visual acuity
• Cone/cone-rod dystrophy
• Central scotoma

Also known as: CORD5