retinal cone dystrophy 4

A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13.

Signs and symptoms

• Constriction of peripheral visual field
• Retinal pigment epithelial mottling
• Photophobia
• Reduced visual acuity
• Visual impairment
• ERG: Reduced dark-adapted b-wave amplitude
• Cone/cone-rod dystrophy