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 ataxia, sensorine...
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| Veröffentlicht in: | Survey of ophthalmology 2010-11, Vol.55 (6), p.531-538 |
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| creator | Rüether, Klaus, MD Baldwin, Eleanor, BSc, RD Casteels, Minne, MD, PhD Feher, Michael D., MD, FRCP Horn, Morten, MD Kuranoff, Susan, MA Leroy, Bart P., MD, PhD Wanders, Ronald J., PhD Wierzbicki, Anthony S., DM, Dphil, FRCPath |
| description | 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. |
| doi_str_mv | 10.1016/j.survophthal.2010.03.007 |
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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.</description><identifier>ISSN: 0039-6257</identifier><identifier>EISSN: 1879-3304</identifier><identifier>DOI: 10.1016/j.survophthal.2010.03.007</identifier><identifier>PMID: 20850855</identifier><identifier>CODEN: SUOPAD</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Adult ; adult Refsum disease ; anosmia ; ataxia ; Biological and medical sciences ; blood plasma filtration ; Dermatology ; Dyskeratosis ; Errors of metabolism ; Humans ; ichthyosis ; Lipids (lysosomal enzyme disorders, storage diseases) ; Medical sciences ; Metabolic diseases ; Miscellaneous ; Nervous system (semeiology, syndromes) ; Nervous system as a whole ; Neurology ; Ophthalmology ; phytanic acid ; Phytanic Acid - blood ; polyneuropathy ; Refsum Disease - diagnosis ; Refsum Disease - therapy ; Retinitis Pigmentosa - diagnosis ; Retinitis Pigmentosa - etiology ; Retinitis Pigmentosa - therapy ; sensorineural hearing loss ; tapetoretinal degeneration</subject><ispartof>Survey of ophthalmology, 2010-11, Vol.55 (6), p.531-538</ispartof><rights>Elsevier Inc.</rights><rights>2010 Elsevier Inc.</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2010 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c512t-6a21dd59c375c5d50a1152e867dd2896872efe92941c0b6a16c7fb98d684b4113</citedby><cites>FETCH-LOGICAL-c512t-6a21dd59c375c5d50a1152e867dd2896872efe92941c0b6a16c7fb98d684b4113</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0039625710000834$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23346571$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20850855$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rüether, Klaus, MD</creatorcontrib><creatorcontrib>Baldwin, Eleanor, BSc, RD</creatorcontrib><creatorcontrib>Casteels, Minne, MD, PhD</creatorcontrib><creatorcontrib>Feher, Michael D., MD, FRCP</creatorcontrib><creatorcontrib>Horn, Morten, MD</creatorcontrib><creatorcontrib>Kuranoff, Susan, MA</creatorcontrib><creatorcontrib>Leroy, Bart P., MD, PhD</creatorcontrib><creatorcontrib>Wanders, Ronald J., PhD</creatorcontrib><creatorcontrib>Wierzbicki, Anthony S., DM, Dphil, FRCPath</creatorcontrib><title>Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy</title><title>Survey of ophthalmology</title><addtitle>Surv Ophthalmol</addtitle><description>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.</description><subject>Adult</subject><subject>adult Refsum disease</subject><subject>anosmia</subject><subject>ataxia</subject><subject>Biological and medical sciences</subject><subject>blood plasma filtration</subject><subject>Dermatology</subject><subject>Dyskeratosis</subject><subject>Errors of metabolism</subject><subject>Humans</subject><subject>ichthyosis</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Miscellaneous</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous system as a whole</subject><subject>Neurology</subject><subject>Ophthalmology</subject><subject>phytanic acid</subject><subject>Phytanic Acid - blood</subject><subject>polyneuropathy</subject><subject>Refsum Disease - diagnosis</subject><subject>Refsum Disease - therapy</subject><subject>Retinitis Pigmentosa - diagnosis</subject><subject>Retinitis Pigmentosa - etiology</subject><subject>Retinitis Pigmentosa - therapy</subject><subject>sensorineural hearing loss</subject><subject>tapetoretinal degeneration</subject><issn>0039-6257</issn><issn>1879-3304</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkduL1DAUh4Mo7rj6L0h9EJ865tq0PgjDrKvCiqDjc0iTUyZjb-a0C_3vTZnxgk9C4ED4zoXvR8gLRreMsuL1aYtzvB_G43S07ZbT9E_FllL9gGxYqatcCCofkg2losoLrvQVeYJ4opRKUenH5IrTUqWnNuTTzs_tlH2BBucuuwkIFuFNtstuh9hlQ5Md7AjTEGEKvW2zmwWnmBYv2c45QAx1C9k0ZIcjRDsuT8mjxrYIzy71mny7fXfYf8jvPr__uN_d5U4xPuWF5cx7VTmhlVNeUcuY4lAW2nteVkWpOTRQ8UoyR-vCssLppq5KX5SyloyJa_LqPHeMw48ZcDJdQAdta3sYZjRaaV1JKVeyOpMuDogRGjPG0Nm4GEbNKtOczF8yzSrTUGGSzNT7_LJlrjvwvzt_2UvAywtg0dm2ibZ3Af9wQshC6fWI_ZmD5OQ-QDToAvQOfIjgJuOH8F_nvP1nimtDH9Li77AAnoY5pojQMIPcUPN1TX8Nn6XcaSmk-AlgLqzT</recordid><startdate>20101101</startdate><enddate>20101101</enddate><creator>Rüether, Klaus, MD</creator><creator>Baldwin, Eleanor, BSc, RD</creator><creator>Casteels, Minne, MD, PhD</creator><creator>Feher, Michael D., MD, FRCP</creator><creator>Horn, Morten, MD</creator><creator>Kuranoff, Susan, MA</creator><creator>Leroy, Bart P., MD, PhD</creator><creator>Wanders, Ronald J., PhD</creator><creator>Wierzbicki, Anthony S., DM, Dphil, FRCPath</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20101101</creationdate><title>Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy</title><author>Rüether, Klaus, MD ; Baldwin, Eleanor, BSc, RD ; Casteels, Minne, MD, PhD ; Feher, Michael D., MD, FRCP ; Horn, Morten, MD ; Kuranoff, Susan, MA ; Leroy, Bart P., MD, PhD ; Wanders, Ronald J., PhD ; Wierzbicki, Anthony S., DM, Dphil, FRCPath</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c512t-6a21dd59c375c5d50a1152e867dd2896872efe92941c0b6a16c7fb98d684b4113</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adult</topic><topic>adult Refsum disease</topic><topic>anosmia</topic><topic>ataxia</topic><topic>Biological and medical sciences</topic><topic>blood plasma filtration</topic><topic>Dermatology</topic><topic>Dyskeratosis</topic><topic>Errors of metabolism</topic><topic>Humans</topic><topic>ichthyosis</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Miscellaneous</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous system as a whole</topic><topic>Neurology</topic><topic>Ophthalmology</topic><topic>phytanic acid</topic><topic>Phytanic Acid - blood</topic><topic>polyneuropathy</topic><topic>Refsum Disease - diagnosis</topic><topic>Refsum Disease - therapy</topic><topic>Retinitis Pigmentosa - diagnosis</topic><topic>Retinitis Pigmentosa - etiology</topic><topic>Retinitis Pigmentosa - therapy</topic><topic>sensorineural hearing loss</topic><topic>tapetoretinal degeneration</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rüether, Klaus, MD</creatorcontrib><creatorcontrib>Baldwin, Eleanor, BSc, RD</creatorcontrib><creatorcontrib>Casteels, Minne, MD, PhD</creatorcontrib><creatorcontrib>Feher, Michael D., MD, FRCP</creatorcontrib><creatorcontrib>Horn, Morten, MD</creatorcontrib><creatorcontrib>Kuranoff, Susan, MA</creatorcontrib><creatorcontrib>Leroy, Bart P., MD, PhD</creatorcontrib><creatorcontrib>Wanders, Ronald J., PhD</creatorcontrib><creatorcontrib>Wierzbicki, Anthony S., DM, Dphil, FRCPath</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Survey of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Rüether, Klaus, MD</au><au>Baldwin, Eleanor, BSc, RD</au><au>Casteels, Minne, MD, PhD</au><au>Feher, Michael D., MD, FRCP</au><au>Horn, Morten, MD</au><au>Kuranoff, Susan, MA</au><au>Leroy, Bart P., MD, PhD</au><au>Wanders, Ronald J., PhD</au><au>Wierzbicki, Anthony S., DM, Dphil, FRCPath</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy</atitle><jtitle>Survey of ophthalmology</jtitle><addtitle>Surv Ophthalmol</addtitle><date>2010-11-01</date><risdate>2010</risdate><volume>55</volume><issue>6</issue><spage>531</spage><epage>538</epage><pages>531-538</pages><issn>0039-6257</issn><eissn>1879-3304</eissn><coden>SUOPAD</coden><abstract>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.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>20850855</pmid><doi>10.1016/j.survophthal.2010.03.007</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult adult Refsum disease anosmia ataxia Biological and medical sciences blood plasma filtration Dermatology Dyskeratosis Errors of metabolism Humans ichthyosis Lipids (lysosomal enzyme disorders, storage diseases) Medical sciences Metabolic diseases Miscellaneous Nervous system (semeiology, syndromes) Nervous system as a whole Neurology Ophthalmology phytanic acid Phytanic Acid - blood polyneuropathy Refsum Disease - diagnosis Refsum Disease - therapy Retinitis Pigmentosa - diagnosis Retinitis Pigmentosa - etiology Retinitis Pigmentosa - therapy sensorineural hearing loss tapetoretinal degeneration |
| title | Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy |
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