Electrophysiolocal findings in Mohr-Tranebjærg syndrome
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Revista Brasileira de Oftalmologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200099 |
Resumo: | Mohr-Tranebjærg syndrome (MTS) is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjærg syndrome. A 24-year-old italian man with Mohr-Tranebjærg syndrome underwent full field electroretinography (ERG) and visual evoked potentials (VEPs). Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non-recordable. ERG showed amplitude reduction of the fotopic, scotopic and 30 Hz flicker responses revealing generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration in Mohr-Tranebjærg syndrome can be also associated with a retinal degeneration. |
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Electrophysiolocal findings in Mohr-Tranebjærg syndromeMohr-Tranebjærg syndromeDeafness-dystonia syndromeElectroretinographyVisual evoked potentialsCase reportsMohr-Tranebjærg syndrome (MTS) is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjærg syndrome. A 24-year-old italian man with Mohr-Tranebjærg syndrome underwent full field electroretinography (ERG) and visual evoked potentials (VEPs). Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non-recordable. ERG showed amplitude reduction of the fotopic, scotopic and 30 Hz flicker responses revealing generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration in Mohr-Tranebjærg syndrome can be also associated with a retinal degeneration.Sociedade Brasileira de Oftalmologia2015-04-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200099Revista Brasileira de Oftalmologia v.74 n.2 2015reponame:Revista Brasileira de Oftalmologia (Online)instname:Sociedade Brasileira de Oftalmologia (SBO)instacron:SBO10.5935/0034-7280.20150022info:eu-repo/semantics/openAccessMendonça,Regina Halfeld Furtado deFerreira,Eliana LuciaAbbruzzese,Stefaniaeng2015-11-26T00:00:00Zoai:scielo:S0034-72802015000200099Revistahttps://rbo.emnuvens.com.br/rbo/indexhttps://old.scielo.br/oai/scielo-oai.phpsob@sboportal.org.br||rbo@sboportal.org.br1982-85510034-7280opendoar:2015-11-26T00:00Revista Brasileira de Oftalmologia (Online) - Sociedade Brasileira de Oftalmologia (SBO)false |
dc.title.none.fl_str_mv |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome |
title |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome |
spellingShingle |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome Mendonça,Regina Halfeld Furtado de Mohr-Tranebjærg syndrome Deafness-dystonia syndrome Electroretinography Visual evoked potentials Case reports |
title_short |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome |
title_full |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome |
title_fullStr |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome |
title_full_unstemmed |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome |
title_sort |
Electrophysiolocal findings in Mohr-Tranebjærg syndrome |
author |
Mendonça,Regina Halfeld Furtado de |
author_facet |
Mendonça,Regina Halfeld Furtado de Ferreira,Eliana Lucia Abbruzzese,Stefania |
author_role |
author |
author2 |
Ferreira,Eliana Lucia Abbruzzese,Stefania |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Mendonça,Regina Halfeld Furtado de Ferreira,Eliana Lucia Abbruzzese,Stefania |
dc.subject.por.fl_str_mv |
Mohr-Tranebjærg syndrome Deafness-dystonia syndrome Electroretinography Visual evoked potentials Case reports |
topic |
Mohr-Tranebjærg syndrome Deafness-dystonia syndrome Electroretinography Visual evoked potentials Case reports |
description |
Mohr-Tranebjærg syndrome (MTS) is an X-liked recessive rare syndrome also known as deafness-dystonia syndrome. The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes they are accompanied by cortical deterioration of vision and mental deterioration. The purpose of this paper is to illustrate a very interesting case of Mohr-Tranebjærg syndrome. A 24-year-old italian man with Mohr-Tranebjærg syndrome underwent full field electroretinography (ERG) and visual evoked potentials (VEPs). Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non-recordable. ERG showed amplitude reduction of the fotopic, scotopic and 30 Hz flicker responses revealing generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration in Mohr-Tranebjærg syndrome can be also associated with a retinal degeneration. |
publishDate |
2015 |
dc.date.none.fl_str_mv |
2015-04-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200099 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72802015000200099 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.5935/0034-7280.20150022 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Oftalmologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Oftalmologia |
dc.source.none.fl_str_mv |
Revista Brasileira de Oftalmologia v.74 n.2 2015 reponame:Revista Brasileira de Oftalmologia (Online) instname:Sociedade Brasileira de Oftalmologia (SBO) instacron:SBO |
instname_str |
Sociedade Brasileira de Oftalmologia (SBO) |
instacron_str |
SBO |
institution |
SBO |
reponame_str |
Revista Brasileira de Oftalmologia (Online) |
collection |
Revista Brasileira de Oftalmologia (Online) |
repository.name.fl_str_mv |
Revista Brasileira de Oftalmologia (Online) - Sociedade Brasileira de Oftalmologia (SBO) |
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sob@sboportal.org.br||rbo@sboportal.org.br |
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1752122337304510464 |