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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