کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4032928 | 1603035 | 2010 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
چشم پزشکی
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چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Survey of Ophthalmology - Volume 55, Issue 6, NovemberâDecember 2010, Pages 531-538
Journal: Survey of Ophthalmology - Volume 55, Issue 6, NovemberâDecember 2010, Pages 531-538
نویسندگان
Klaus MD, Eleanor BSc, RD, Minne MD, PhD, Michael D. MD, FRCP, Morten MD, Susan MA, Bart P. MD, PhD, Ronald J. PhD, Anthony S. DM, Dphil, FRCPath,