Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy

Survey of Ophthalmology

Volumn 55, Issue 6, 2010, Pages 531-538

  Rüether, Klaus ^a   Baldwin, Eleanor ^b   Casteels, Minne ^c   Feher, Michael D ^b   Horn, Morten ^d   Kuranoff, Susan ^e   Leroy, Bart P ^f   Wanders, Ronald J ^g   Wierzbicki, Anthony S ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b CHELSEA AND WESTMINSTER HOSPITAL   (United Kingdom)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^e Refsum Disease Support Network   (Switzerland)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

Adult Refsum disease; Anosmia; Ataxia; Blood plasma filtration; Ichthyosis; Phytanic acid; Polyneuropathy; Sensorineural hearing loss; Tapetoretinal degeneration

Indexed keywords

OXYGENASE; PEROXIN; PEROXIN 7; PHYTANIC ACID; PHYTANOYL COENZYME A HYDROXYLASE; UNCLASSIFIED DRUG;

ANOSMIA; BLOOD FILTRATION; CEREBELLAR ATAXIA; CLINICAL FEATURE; DIET THERAPY; ELECTRORETINOGRAM; FATTY ACID BLOOD LEVEL; HEART DISEASE; HUMAN; ICHTHYOSIS; NONHUMAN; OPHTHALMOSCOPY; PATHOGENESIS; PERCEPTION DEAFNESS; PLASMAPHERESIS; POLYNEUROPATHY; PRIORITY JOURNAL; REFSUM DISEASE; REVIEW; SIGNAL TRANSDUCTION; SKELETON MALFORMATION; TAPETORETINAL DEGENERATION; TISSUE LEVEL;

ADULT; HUMANS; PHYTANIC ACID; REFSUM DISEASE; RETINITIS PIGMENTOSA;

EID: 77957755334     PISSN: 00396257     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.survophthal.2010.03.007     Document Type: Review

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