Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

What is Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome?

Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

Other condition names

  • PHARC syndrome
  • Peripheral neuropathy, Fiskerstrand type
  • Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome

Inheritance type

Autosomal recessive

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Childhood
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