Conditions / Genetic

retinitis pigmentosa 98

info ยท Genetic

A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11

A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12.

Signs and symptoms

  • Nyctalopia
  • Strabismus
  • Severely reduced visual acuity
  • Mildly reduced visual acuity
  • High myopia
  • Cystoid macular edema
  • Moderately reduced visual acuity
  • Macular edema
  • Pseudophakia
  • Amblyopia

Also known as: RP98