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