Conditions / Genetic

retinitis pigmentosa 27

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11.

Signs and symptoms

  • Rod-cone dystrophy
  • Blindness
  • Peripapillary chorioretinal atrophy
  • Visual impairment
  • Macular atrophy
  • Chorioretinal atrophy
  • Constriction of peripheral visual field
  • Undetectable electroretinogram
  • Spicular pigmentation of the retina
  • Nyctalopia

Also known as: RP27