Conditions / Genetic

retinitis pigmentosa 57

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3.

Signs and symptoms

  • Constriction of peripheral visual field
  • Reduced visual acuity
  • Spicular pigmentation of the retina
  • Cystoid macular edema
  • Optic disc pallor
  • Rod-cone dystrophy
  • Absent foveal reflex
  • Attenuation of retinal blood vessels

Also known as: RP57