Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.

  title={Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.},
  author={Klaus R{\"u}ether and Eleanor J Baldwin and Minne Casteels and Michael Feher and Morten Andreas Horn and Susan J Kuranoff and Bart Peter Leroy and Ronald James Wanders and Anthony S Wierzbicki},
  journal={Survey of ophthalmology},
  volume={55 6},
Adult Refsum disease is characterized by an elevated plasma phytanic acid level and high concentrations of phytanic acid in a variety of tissues. Besides tapetoretinal degeneration, additional symptoms are anosmia, skeletal malformations, chronic polyneuropathy, cerebellar ataxia, sensorineural hearing loss, ichthyosis, and cardiac abnormalities. A diet low in phytanic acid ameliorates polyneuropathy and ataxia and slows or even stops the other manifestations. In order to be able to apply… CONTINUE READING


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Refsum disease, in Scriver CR, Beaudet AL, Sly WS (eds) The Metabolic and Molecular Bases of Inherited Disease

RJA Wanders, C Jakobs, OH Skjeldal
View 3 Excerpts
Highly Influenced

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease.

Proceedings of the National Academy of Sciences of the United States of America • 2008
View 1 Excerpt

Adult Refsums disease—diet modification results in sustained reduction in phytanic acid and absence of acute complications

E Baldwin, C Harley, FB Gibberd
J Inherit Metab Dis • 2006
View 1 Excerpt

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