Systemic Syndromes Associated with Retinitis Pigmentosa:

  • Usher's Syndrome- RP + nerve deafness
  • Refsum's Syndrome RP +PHYTANIC ACID OXIDASE DEFICIENCY- peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the CSF
  • Bardet-Biedl(Lawrence Moon) Syndrome- RP+ Syndactyly,polydactyly fingers and/or toes, obesity, renal and developmental delay and learning difficulties.
  • Alstrom Syndrome- RP+ Obesity' Deafness, Diabetes; Cardiac
  • NARP Synrome: Neuropathy, Ataxia and Retinitis Pigmentosa
  • Kearns Sayre Syndrome-RP + external ophthalmoplegia and complete heart block