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Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy |
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| Authors: | Klaus Rü ether,Eleanor Baldwin,Minne Casteels,Michael D. Feher,Morten Horn,Susan Kuranoff,Bart P. Leroy,Ronald J. Wanders,Anthony S. Wierzbicki |
| Affiliation: | 1 Charité-Eye Hospital, Campus Virchow-Klinikum, Berlin, Germany 2 Refsums Clinic Chelsea and Westminster Hospital Foundation Trust, London, UK 3 Department of Molecular Cell Biology, Katholieke Universiteit Leuven, Belgium 4 Department of Neurology, Ulleval University Hospital, Oslo, Norway 5 Refsum Disease Support Network, Basel, Switzerland 6 Department of Ophthalmology and Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium 7 Genetic Metabolic Diseases Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands |
| Abstract: | 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 dietary therapy, as many patients as possible (even better if all of them are) have to be identified at an early stage. The ophthalmologist plays a crucial role in achieving this goal because of the early manifestation of the tapetoretinal degeneration. |
| Keywords: | adult Refsum disease anosmia ataxia blood plasma filtration ichthyosis phytanic acid polyneuropathy sensorineural hearing loss tapetoretinal degeneration |
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