Conditions / Genetic

cone-rod dystrophy 24

info ยท Genetic

A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.

Signs and symptoms

  • Macular drusen
  • Pigmentary retinopathy
  • Macular degeneration
  • Attenuation of retinal blood vessels
  • Scotoma
  • Nyctalopia
  • Photophobia
  • Cone/cone-rod dystrophy
  • Color vision defect
  • Pericentral scotoma