Document Detail

Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
MedLine Citation:
PMID:  20850855     Owner:  NLM     Status:  MEDLINE    
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.
Klaus Rüether; Eleanor Baldwin; Minne Casteels; Michael D Feher; Morten Horn; Susan Kuranoff; Bart P Leroy; Ronald J Wanders; Anthony S Wierzbicki
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Publication Detail:
Type:  Journal Article; Review     Date:  2010-09-20
Journal Detail:
Title:  Survey of ophthalmology     Volume:  55     ISSN:  1879-3304     ISO Abbreviation:  Surv Ophthalmol     Publication Date:    2010 Nov-Dec
Date Detail:
Created Date:  2010-10-11     Completed Date:  2010-12-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0404551     Medline TA:  Surv Ophthalmol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  531-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2010 Elsevier Inc. All rights reserved.
Charité-Eye Hospital, Campus Virchow-Klinikum, Berlin, Germany.
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MeSH Terms
Phytanic Acid / blood
Refsum Disease* / diagnosis,  therapy
Retinitis Pigmentosa* / diagnosis,  etiology,  therapy
Reg. No./Substance:
14721-66-5/Phytanic Acid

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