Conditions / Genetic

retinitis pigmentosa 1

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12.

Signs and symptoms

  • Constriction of peripheral visual field
  • Spicular pigmentation of the retina
  • Optic disc pallor
  • Attenuation of retinal blood vessels
  • Nyctalopia
  • Reduced visual acuity
  • Rod-cone dystrophy
  • Undetectable light- and dark-adapted electroretinogram
  • Myopia
  • Scotoma

Also known as: RP1