Conditions / Genetic

retinitis pigmentosa 91

info ยท Genetic

A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on

A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14.

Signs and symptoms

  • Foveal hyperpigmentation
  • Dyschromatopsia
  • Macular dystrophy

Also known as: RP91