Conditions / Genetic

retinitis pigmentosa 13

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3.

Signs and symptoms

  • Nyctalopia
  • Cystoid macular edema
  • Constriction of peripheral visual field
  • Spicular pigmentation of the retina
  • Retinal degeneration
  • Rod-cone dystrophy
  • Attenuation of retinal blood vessels
  • Subcapsular cataract
  • Perifoveal ring of hyperautofluorescence
  • Optic disc drusen

Also known as: RP13