Conditions / Genetic

retinitis pigmentosa with or without situs inversus

info · Genetic · ICD-10: H35.5

A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13.

Signs and symptoms

  • Decreased nasal nitric oxide
  • Reduced sperm motility
  • Reduced visual acuity
  • Rod-cone dystrophy
  • Macular atrophy
  • Situs inversus totalis
  • Bronchiectasis
  • Productive cough
  • Recurrent infections
  • Optic disc pallor