Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos brasileiros de oftalmologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000400215 |
Resumo: | ABSTRACT Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis. |
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Arquivos brasileiros de oftalmologia (Online) |
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Retinal function in patients with the neuronal ceroid lipofuscinosis phenotypeNeuronal ceroid lipofuscinosesMembrane proteins/geneticsRetina/physiopathologyElectroretinographyRetinal dystrophiesVisual acuityABSTRACT Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis.Conselho Brasileiro de Oftalmologia2017-08-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000400215Arquivos Brasileiros de Oftalmologia v.80 n.4 2017reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.5935/0004-2749.20170053info:eu-repo/semantics/openAccessQuagliato,Elizabeth Maria Aparecida BarasneviciusRocha,Daniel MartinsSacai,Paula YuriWatanabe,Sung SongSalomão,Solange RiosBerezovsky,Adrianaeng2017-09-18T00:00:00Zoai:scielo:S0004-27492017000400215Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2017-09-18T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false |
dc.title.none.fl_str_mv |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype |
title |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype |
spellingShingle |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype Quagliato,Elizabeth Maria Aparecida Barasnevicius Neuronal ceroid lipofuscinoses Membrane proteins/genetics Retina/physiopathology Electroretinography Retinal dystrophies Visual acuity |
title_short |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype |
title_full |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype |
title_fullStr |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype |
title_full_unstemmed |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype |
title_sort |
Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype |
author |
Quagliato,Elizabeth Maria Aparecida Barasnevicius |
author_facet |
Quagliato,Elizabeth Maria Aparecida Barasnevicius Rocha,Daniel Martins Sacai,Paula Yuri Watanabe,Sung Song Salomão,Solange Rios Berezovsky,Adriana |
author_role |
author |
author2 |
Rocha,Daniel Martins Sacai,Paula Yuri Watanabe,Sung Song Salomão,Solange Rios Berezovsky,Adriana |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Quagliato,Elizabeth Maria Aparecida Barasnevicius Rocha,Daniel Martins Sacai,Paula Yuri Watanabe,Sung Song Salomão,Solange Rios Berezovsky,Adriana |
dc.subject.por.fl_str_mv |
Neuronal ceroid lipofuscinoses Membrane proteins/genetics Retina/physiopathology Electroretinography Retinal dystrophies Visual acuity |
topic |
Neuronal ceroid lipofuscinoses Membrane proteins/genetics Retina/physiopathology Electroretinography Retinal dystrophies Visual acuity |
description |
ABSTRACT Purpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-08-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000400215 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000400215 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.5935/0004-2749.20170053 |
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 |
Conselho Brasileiro de Oftalmologia |
publisher.none.fl_str_mv |
Conselho Brasileiro de Oftalmologia |
dc.source.none.fl_str_mv |
Arquivos Brasileiros de Oftalmologia v.80 n.4 2017 reponame:Arquivos brasileiros de oftalmologia (Online) instname:Conselho Brasileiro de Oftalmologia (CBO) instacron:CBO |
instname_str |
Conselho Brasileiro de Oftalmologia (CBO) |
instacron_str |
CBO |
institution |
CBO |
reponame_str |
Arquivos brasileiros de oftalmologia (Online) |
collection |
Arquivos brasileiros de oftalmologia (Online) |
repository.name.fl_str_mv |
Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO) |
repository.mail.fl_str_mv |
aboonline@cbo.com.br||abo@cbo.com.br |
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1754209029462163456 |