clinical features

Last reviewed 01/2018

Clinical features include:

  • retinitis pigmentosa
  • cataracts
  • ichthyosis
  • ataxia
  • sensorineural deafness
  • dilated cardiomyopathy
  • peripheral neuropathy

Presentation is in the second decade or later with a senorimotor polyneuropathy with ataxia and visual and hearing problems.