The clinical features of albinism and their correlation with visual evoked potentials
Aim: To investigate the relation between the clinical and electrophysiological abnormalities of patients undergoing visual evoked potential investigation for albinism. Methods: 40 subjects with a probable or possible clinical diagnosis of albinism underwent pattern appearance and/or flash visual evo...
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| Veröffentlicht in: | British journal of ophthalmology 2003-06, Vol.87 (6), p.767-772 |
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| description | Aim: To investigate the relation between the clinical and electrophysiological abnormalities of patients undergoing visual evoked potential investigation for albinism. Methods: 40 subjects with a probable or possible clinical diagnosis of albinism underwent pattern appearance and/or flash visual evoked potential (VEP) examination. The VEP findings are correlated with the clinical features of albinism determined by clinical examination and orthoptic assessment. Results: The majority of patients with clinical evidence of albinism showed a contralateral predominance in the VEPs. There was close correlation between the clinical signs of albinism and the degree of contralateral VEP predominance. This manifested as an interhemispheric latency asymmetry to monocular pattern appearance stimulation but amplitude asymmetry to flash stimulation. The strongest correlation for pattern appearance interhemispheric latency difference was with foveal hypoplasia (rho = 0.58; p = 0.0003) followed by nystagmus (rho = 0.48; p = 0.0027) and iris transillumination (rho = 0.33; p = 0.039). The VEP abnormalities were of greater magnitude in those patients with most features of albinism. Several patients with apparently mild disorders of ocular pigmentation had small but significantly abnormal VEP latency asymmetries. Conclusion: There is a strong association between the magnitude of the interhemispheric latency asymmetry of the pattern appearance VEP, and of amplitude asymmetry of the flash VEP, with the clinical signs of albinism. The data are consistent with a spectrum of abnormalities in albinism involving both clinical expression and electrophysiological misrouting, which is wider than previously recognised. |
| doi_str_mv | 10.1136/bjo.87.6.767 |
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Methods: 40 subjects with a probable or possible clinical diagnosis of albinism underwent pattern appearance and/or flash visual evoked potential (VEP) examination. The VEP findings are correlated with the clinical features of albinism determined by clinical examination and orthoptic assessment. Results: The majority of patients with clinical evidence of albinism showed a contralateral predominance in the VEPs. There was close correlation between the clinical signs of albinism and the degree of contralateral VEP predominance. This manifested as an interhemispheric latency asymmetry to monocular pattern appearance stimulation but amplitude asymmetry to flash stimulation. The strongest correlation for pattern appearance interhemispheric latency difference was with foveal hypoplasia (rho = 0.58; p = 0.0003) followed by nystagmus (rho = 0.48; p = 0.0027) and iris transillumination (rho = 0.33; p = 0.039). The VEP abnormalities were of greater magnitude in those patients with most features of albinism. Several patients with apparently mild disorders of ocular pigmentation had small but significantly abnormal VEP latency asymmetries. Conclusion: There is a strong association between the magnitude of the interhemispheric latency asymmetry of the pattern appearance VEP, and of amplitude asymmetry of the flash VEP, with the clinical signs of albinism. The data are consistent with a spectrum of abnormalities in albinism involving both clinical expression and electrophysiological misrouting, which is wider than previously recognised.</description><identifier>ISSN: 0007-1161</identifier><identifier>EISSN: 1468-2079</identifier><identifier>DOI: 10.1136/bjo.87.6.767</identifier><identifier>PMID: 12770978</identifier><identifier>CODEN: BJOPAL</identifier><language>eng</language><publisher>BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd</publisher><subject>Adolescent ; Adult ; Albinism ; Albinism, Ocular - physiopathology ; Aminoacid disorders ; binocular vision ; Biological and medical sciences ; Child ; Child, Preschool ; Clinical Science ; Dermatology ; Errors of metabolism ; Evoked Potentials, Visual - physiology ; Female ; Humans ; Male ; Medical sciences ; Metabolic diseases ; nystagmus ; Ophthalmology ; Pigmentary diseases of the skin ; Reaction Time ; Visual Acuity - physiology ; visual development ; visual evoked potentials</subject><ispartof>British journal of ophthalmology, 2003-06, Vol.87 (6), p.767-772</ispartof><rights>Copyright 2003 British Journal of Ophthalmology</rights><rights>2003 INIST-CNRS</rights><rights>COPYRIGHT 2003 BMJ Publishing Group Ltd.</rights><rights>Copyright: 2003 Copyright 2003 British Journal of Ophthalmology</rights><rights>Copyright © Copyright 2003 British Journal of Ophthalmology 2003</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b585t-c1c3f57d6b45a729a717c9cdb3eee70c28b3284bb025885d303f833bc3f6b6813</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771702/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC1771702/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14843366$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12770978$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Dorey, S E</creatorcontrib><creatorcontrib>Neveu, M M</creatorcontrib><creatorcontrib>Burton, L C</creatorcontrib><creatorcontrib>Sloper, J J</creatorcontrib><creatorcontrib>Holder, G E</creatorcontrib><title>The clinical features of albinism and their correlation with visual evoked potentials</title><title>British journal of ophthalmology</title><addtitle>Br J Ophthalmol</addtitle><description>Aim: To investigate the relation between the clinical and electrophysiological abnormalities of patients undergoing visual evoked potential investigation for albinism. Methods: 40 subjects with a probable or possible clinical diagnosis of albinism underwent pattern appearance and/or flash visual evoked potential (VEP) examination. The VEP findings are correlated with the clinical features of albinism determined by clinical examination and orthoptic assessment. Results: The majority of patients with clinical evidence of albinism showed a contralateral predominance in the VEPs. There was close correlation between the clinical signs of albinism and the degree of contralateral VEP predominance. This manifested as an interhemispheric latency asymmetry to monocular pattern appearance stimulation but amplitude asymmetry to flash stimulation. The strongest correlation for pattern appearance interhemispheric latency difference was with foveal hypoplasia (rho = 0.58; p = 0.0003) followed by nystagmus (rho = 0.48; p = 0.0027) and iris transillumination (rho = 0.33; p = 0.039). The VEP abnormalities were of greater magnitude in those patients with most features of albinism. Several patients with apparently mild disorders of ocular pigmentation had small but significantly abnormal VEP latency asymmetries. Conclusion: There is a strong association between the magnitude of the interhemispheric latency asymmetry of the pattern appearance VEP, and of amplitude asymmetry of the flash VEP, with the clinical signs of albinism. The data are consistent with a spectrum of abnormalities in albinism involving both clinical expression and electrophysiological misrouting, which is wider than previously recognised.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Albinism</subject><subject>Albinism, Ocular - physiopathology</subject><subject>Aminoacid disorders</subject><subject>binocular vision</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Clinical Science</subject><subject>Dermatology</subject><subject>Errors of metabolism</subject><subject>Evoked Potentials, Visual - physiology</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>nystagmus</subject><subject>Ophthalmology</subject><subject>Pigmentary diseases of the skin</subject><subject>Reaction Time</subject><subject>Visual Acuity - physiology</subject><subject>visual development</subject><subject>visual evoked potentials</subject><issn>0007-1161</issn><issn>1468-2079</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNp9klFv0zAQxy0EYqXwxjOKhIAXUuw4sZ0XpK1igDSBkDZeLdu5tO6SuLOTAt-em1qtgCZk2Seff3d_n32EPGd0wRgX7-wmLJRciIUU8gGZsVKovKCyfkhmlFKZMybYCXmS0ga3hWDyMTlhhZS0lmpGri7XkLnOD96ZLmvBjFOElIU2M51Fb-ozMzTZuAYfMxdihM6MPgzZDz-us51PE4bBLlxDk23DCMPoTZeekkctGnh2sHNydf7hcvkpv_j68fPy9CK3larG3DHH20o2wpaVkUVtJJOudo3lACCpK5TlhSqtpUWlVNVwylvFucUoYYVifE7e7_NuJ9tD41A-mk5vo-9N_KWD8frvk8Gv9SrsNJMoRQtM8PqQIIabCdKoe58cdJ0ZIExJS87LssB1Tl7-A27CFAcs7jZXTWmNE6l8T61MB9oPbUBVt4IBUDwM0Hp0nzLKWV2wokZ-cQ-Po4Heu3sD3u4DXAwpRWjvamVU37aDxnbQSmqhsR0Qf_Hn-xzhw_8j8OoAmIQN0EYzOJ-OXKlKzoU4FubTCD_vzk281igjK_3l-1KfV2dKnoml_ob8mz1v-83_r_gbKMXZVA</recordid><startdate>20030601</startdate><enddate>20030601</enddate><creator>Dorey, S E</creator><creator>Neveu, M M</creator><creator>Burton, L C</creator><creator>Sloper, J J</creator><creator>Holder, G E</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><general>Copyright 2003 British Journal of Ophthalmology</general><scope>BSCLL</scope><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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20030601</creationdate><title>The clinical features of albinism and their correlation with visual evoked potentials</title><author>Dorey, S E ; Neveu, M M ; Burton, L C ; Sloper, J J ; Holder, G E</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b585t-c1c3f57d6b45a729a717c9cdb3eee70c28b3284bb025885d303f833bc3f6b6813</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Albinism</topic><topic>Albinism, Ocular - physiopathology</topic><topic>Aminoacid disorders</topic><topic>binocular vision</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Clinical Science</topic><topic>Dermatology</topic><topic>Errors of metabolism</topic><topic>Evoked Potentials, Visual - physiology</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>nystagmus</topic><topic>Ophthalmology</topic><topic>Pigmentary diseases of the skin</topic><topic>Reaction Time</topic><topic>Visual Acuity - physiology</topic><topic>visual development</topic><topic>visual evoked potentials</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Dorey, S E</creatorcontrib><creatorcontrib>Neveu, M M</creatorcontrib><creatorcontrib>Burton, L C</creatorcontrib><creatorcontrib>Sloper, J J</creatorcontrib><creatorcontrib>Holder, G E</creatorcontrib><collection>Istex</collection><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>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>British journal of ophthalmology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Dorey, S E</au><au>Neveu, M M</au><au>Burton, L C</au><au>Sloper, J J</au><au>Holder, G E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The clinical features of albinism and their correlation with visual evoked potentials</atitle><jtitle>British journal of ophthalmology</jtitle><addtitle>Br J Ophthalmol</addtitle><date>2003-06-01</date><risdate>2003</risdate><volume>87</volume><issue>6</issue><spage>767</spage><epage>772</epage><pages>767-772</pages><issn>0007-1161</issn><eissn>1468-2079</eissn><coden>BJOPAL</coden><abstract>Aim: To investigate the relation between the clinical and electrophysiological abnormalities of patients undergoing visual evoked potential investigation for albinism. Methods: 40 subjects with a probable or possible clinical diagnosis of albinism underwent pattern appearance and/or flash visual evoked potential (VEP) examination. The VEP findings are correlated with the clinical features of albinism determined by clinical examination and orthoptic assessment. Results: The majority of patients with clinical evidence of albinism showed a contralateral predominance in the VEPs. There was close correlation between the clinical signs of albinism and the degree of contralateral VEP predominance. This manifested as an interhemispheric latency asymmetry to monocular pattern appearance stimulation but amplitude asymmetry to flash stimulation. The strongest correlation for pattern appearance interhemispheric latency difference was with foveal hypoplasia (rho = 0.58; p = 0.0003) followed by nystagmus (rho = 0.48; p = 0.0027) and iris transillumination (rho = 0.33; p = 0.039). The VEP abnormalities were of greater magnitude in those patients with most features of albinism. Several patients with apparently mild disorders of ocular pigmentation had small but significantly abnormal VEP latency asymmetries. Conclusion: There is a strong association between the magnitude of the interhemispheric latency asymmetry of the pattern appearance VEP, and of amplitude asymmetry of the flash VEP, with the clinical signs of albinism. The data are consistent with a spectrum of abnormalities in albinism involving both clinical expression and electrophysiological misrouting, which is wider than previously recognised.</abstract><cop>BMA House, Tavistock Square, London, WC1H 9JR</cop><pub>BMJ Publishing Group Ltd</pub><pmid>12770978</pmid><doi>10.1136/bjo.87.6.767</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Adult Albinism Albinism, Ocular - physiopathology Aminoacid disorders binocular vision Biological and medical sciences Child Child, Preschool Clinical Science Dermatology Errors of metabolism Evoked Potentials, Visual - physiology Female Humans Male Medical sciences Metabolic diseases nystagmus Ophthalmology Pigmentary diseases of the skin Reaction Time Visual Acuity - physiology visual development visual evoked potentials |
| title | The clinical features of albinism and their correlation with visual evoked potentials |
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