cone-rod dystrophy 20

A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21.

Signs and symptoms

• Constriction of peripheral visual field
• Nystagmus
• Reduced visual acuity
• Central scotoma
• Tritanomaly
• Spicular pigmentation of the retina
• Visual impairment
• Cone/cone-rod dystrophy
• High myopia
• Optic disc pallor

Also known as: CORD20