Refsum Ds.

  • Refsum's disease is due to deficiency of Phytanic alpha oxidase
  • Refsum disease is an example of hereditary neuropathies associated with abnormal lipid metabolism
  • Prominent corneal nerves are seen in Refsum syndrome
  • Refsum’s disease shows retinitis pigmentosa. 
  • Combination of retinitis pigmentosa and ichthyosis is seen in Refsum's syndrome.
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