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

Klaus Ruether; Eleanor Baldwin; Minne Casteels; Michael D. Feher; Morten Horn; Susan Kuranoff; Bart P. Leroy; Ronald J. Wanders; Anthony S. Wierzbicki

doi:https://doi.org/10.1016/j.survophthal.2010.03.007

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

Klaus Ruether, Eleanor Baldwin, Minne Casteels, Michael D. Feher, Morten Horn, Susan Kuranoff, Bart P. Leroy, Ronald J. Wanders, Anthony S. Wierzbicki

Amsterdam Gastroenterology Endocrinology Metabolism (AMC)

Research output: Contribution to journal › Review article › Academic › peer-review

29 Citations (Scopus)

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, 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. (Surv Ophtholmol 55:531-538, 2010. (C) 2010 Elsevier Inc All rights reserved)

Original language	English
Pages (from-to)	531-538
Journal	Survey of ophthalmology
Volume	55
Issue number	6
DOIs	https://doi.org/10.1016/j.survophthal.2010.03.007
Publication status	Published - 2010

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https://doi.org/10.1016/j.survophthal.2010.03.007

Cite this

@article{eb8f1104cba1474ebef9175fbf77ceaa,

title = "Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy",

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, 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. (Surv Ophtholmol 55:531-538, 2010. (C) 2010 Elsevier Inc All rights reserved)",

author = "Klaus Ruether and Eleanor Baldwin and Minne Casteels and Feher, {Michael D.} and Morten Horn and Susan Kuranoff and Leroy, {Bart P.} and Wanders, {Ronald J.} and Wierzbicki, {Anthony S.}",

year = "2010",

doi = "https://doi.org/10.1016/j.survophthal.2010.03.007",

language = "English",

volume = "55",

pages = "531--538",

journal = "Survey of ophthalmology",

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T1 - Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy

AU - Ruether, Klaus

AU - Baldwin, Eleanor

AU - Casteels, Minne

AU - Feher, Michael D.

AU - Horn, Morten

AU - Kuranoff, Susan

AU - Leroy, Bart P.

AU - Wanders, Ronald J.

AU - Wierzbicki, Anthony S.

PY - 2010

Y1 - 2010

N2 - 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, 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. (Surv Ophtholmol 55:531-538, 2010. (C) 2010 Elsevier Inc All rights reserved)

AB - 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, 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. (Surv Ophtholmol 55:531-538, 2010. (C) 2010 Elsevier Inc All rights reserved)

U2 - https://doi.org/10.1016/j.survophthal.2010.03.007

DO - https://doi.org/10.1016/j.survophthal.2010.03.007

M3 - Review article

C2 - 20850855

SN - 0039-6257

VL - 55

SP - 531

EP - 538

JO - Survey of ophthalmology

JF - Survey of ophthalmology

IS - 6

ER -