Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

ABHD12

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

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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.

Epidemiology

The syndrome has been described in three patients from a consanguineous family (one brother, one sister and a male cousin).

Clinical description

The disease manifests during childhood with pes cavus and tendoachilles contractures. A disorder of gait, due to ataxia and spasticity, develops during adulthood. Contrarily to Refsum disease, plasmatic phytanic and pristanic acid levels as well as alpha-oxidation enzymatic activity are normal.

Etiology

Transmission is autosomal recessive. The disease was mapped on chromosome 20 (20p11.21-q12).