Conditions / Genetic

retinitis pigmentosa 42

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3.

Signs and symptoms

  • Peripapillary atrophy
  • Reduced visual acuity
  • Perifoveal ring of hyperautofluorescence
  • Rod-cone dystrophy
  • Cystoid macular edema

Also known as: RP42