GTR Home > Conditions/Phenotypes > Phytanic acid storage disease

Disease characteristics

Excerpted from the GeneReview: Refsum Disease
Refsum disease is characterized by anosmia (a universal finding) and early-onset retinitis pigmentosa with variable combinations of neuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to over age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems which develop later in life.

Available tests

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Associated genes

Clinical features

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  • Cardiomegaly
  • Miosis
  • Hyporeflexia
  • Irregular heart beat
  • Increased CSF protein
  • Short fourth metatarsal
  • Cataract
  • Nystagmus
  • Sensorineural hearing impairment
  • Anosmia
  • Ptosis
  • Retinitis pigmentosa
  • Retinal degeneration
  • Night blindness
  • Ataxia
  • Congestive heart failure
  • Cardiomyopathy
  • Pes cavus
  • Multiple epiphyseal dysplasia
  • Sensory impairment
  • Limb muscle weakness
  • Sensorimotor neuropathy
  • Ichthyosis
  • Elevated levels of phytanic acid
  • Abnormal renal physiology
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