Conditions / Genetic

retinitis pigmentosa 96

info ยท Genetic

A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in hetero

A retinitis pigmentosa characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade that has_material_basis_in heterozygous mutation in the SAG gene on chromosome 2q37.

Signs and symptoms

  • Spicular pigmentation of the retina
  • Rod-cone dystrophy
  • Retinal thinning on OCT
  • Reduced visual acuity
  • Constriction of peripheral visual field

Also known as: RP96