Conditions / Genetic

retinitis pigmentosa 23

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22.

Signs and symptoms

  • Constriction of peripheral visual field
  • Severely reduced visual acuity
  • Absent foveal reflex
  • Rod-cone dystrophy
  • Retinal pigment epithelial atrophy
  • Attenuation of retinal blood vessels
  • Mild myopia
  • Color vision defect
  • Photophobia
  • Posterior subcapsular cataract

Also known as: RP23