Conditions / Genetic

retinitis pigmentosa 41

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15.

Signs and symptoms

  • Spicular pigmentation of the retina
  • Severely reduced visual acuity
  • Macular degeneration
  • Optic disc pallor
  • Attenuation of retinal blood vessels
  • Nystagmus
  • Undetectable electroretinogram
  • Nyctalopia
  • Pigmentary retinopathy
  • Peripheral visual field loss

Also known as: RP41