Refsum disease

info · Genetic · ICD-10: G60.1

A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues.

Signs and symptoms

Reduced phytanic acid oxidase activity in cultured fibroblasts
Nyctalopia
Somatic sensory dysfunction
Ataxia
Limb muscle weakness
Arrhythmia
Cataract
Nystagmus
Sensorimotor neuropathy
Miosis

Also known as: HMSN type IV; HSMN IV; Heredopathia atactica polyneuritiformis; Refsum's disease; adult Refsum disease