Conditions / Genetic

retinitis pigmentosa 71

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23.

Signs and symptoms

  • Nyctalopia
  • Optic disc drusen
  • Perifoveal ring of hyperautofluorescence
  • Optic disc pallor
  • Attenuation of retinal blood vessels
  • Scoliosis
  • Rod-cone dystrophy

Also known as: RP71