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

@article{Rether2010AdultRD,
  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},
  year={2010},
  volume={55 6},
  pages={531-8}
}
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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