Conditions / Genetic

cone-rod dystrophy 3

info · Genetic

A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22.

Signs and symptoms

  • Color vision defect
  • Peripheral visual field loss
  • Central scotoma
  • Visual loss
  • Pigmentary retinopathy
  • Cone/cone-rod dystrophy
  • ERG: Reduced dark-adapted b-wave amplitude
  • Optic disc pallor
  • Attenuation of retinal blood vessels
  • Bull's eye maculopathy

Also known as: CORD3