Conditions / Genetic

retinitis pigmentosa 86

info ยท Genetic

A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34.

Signs and symptoms

  • Spicular pigmentation of the retina
  • Nyctalopia
  • Progressive visual loss
  • Attenuation of retinal blood vessels
  • Nummular pigmentation of the retina
  • Optic disc pallor
  • Retinal pigment epithelial atrophy
  • Hyperautofluorescent retinal lesion
  • Cortical cataract
  • Cystoid macular edema

Also known as: RP86