Refsum Disease - Key Clinical Features

Ichthyosis

Resembles ichthyosis vulgaris (late onset)

Ocular findings

Decreased night vision (first clinical sign)
Retinitis pigmentosa (very early sign)
Restriction of visual fields
Decreased visual acuity
Posterior subcaspular cataracts
Abnormal papillary responses
Nystagmus
Glaucoma

Neurological findings

Cerebellar ataxia
Peripheral polyneuropathy

Skeletal findings

Skeletal abnormalities
Shortening of the distal phalanx of the thumbs (conical appearance)
Shortening of the fourth metatarsal
Epiphyseal flattening of the elbows and knees

Renal dysfunction

Cardiomyopathy

Arrhythmias