X-linked cone-rod dystrophy 3

A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.

Signs and symptoms

• Color vision defect
• Abnormal macular pigmentation
• Abnormal light- and dark-adapted electroretinogram
• Reduced visual acuity
• Visual impairment
• Central scotoma
• Cone/cone-rod dystrophy
• Myopia
• Astigmatism
• Retinal detachment

Also known as: CORDX3