Macular dystrophy associated with Kjellin’s syndrome: a case report
Autor(a) principal: | |
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Data de Publicação: | 2015 |
Outros Autores: | , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Arquivos brasileiros de oftalmologia (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492015000200014 |
Resumo: | Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin’s syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin’s syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination. |
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Arquivos brasileiros de oftalmologia (Online) |
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Macular dystrophy associated with Kjellin’s syndrome: a case reportMacular degenerationSpastic paraplegia, hereditary/diagnosisDiagnostic techniques, ophthalmologicalCase reportsHereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin’s syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin’s syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination.Conselho Brasileiro de Oftalmologia2015-04-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492015000200014Arquivos Brasileiros de Oftalmologia v.78 n.2 2015reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.5935/0004-2749.20150031info:eu-repo/semantics/openAccessCastro,Vinícius Monteiro deMeirelles,AndréArcieri,Rafael SaranMessias,KatharinaMessias,Andréeng2015-04-27T00:00:00Zoai:scielo:S0004-27492015000200014Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2015-04-27T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false |
dc.title.none.fl_str_mv |
Macular dystrophy associated with Kjellin’s syndrome: a case report |
title |
Macular dystrophy associated with Kjellin’s syndrome: a case report |
spellingShingle |
Macular dystrophy associated with Kjellin’s syndrome: a case report Castro,Vinícius Monteiro de Macular degeneration Spastic paraplegia, hereditary/diagnosis Diagnostic techniques, ophthalmological Case reports |
title_short |
Macular dystrophy associated with Kjellin’s syndrome: a case report |
title_full |
Macular dystrophy associated with Kjellin’s syndrome: a case report |
title_fullStr |
Macular dystrophy associated with Kjellin’s syndrome: a case report |
title_full_unstemmed |
Macular dystrophy associated with Kjellin’s syndrome: a case report |
title_sort |
Macular dystrophy associated with Kjellin’s syndrome: a case report |
author |
Castro,Vinícius Monteiro de |
author_facet |
Castro,Vinícius Monteiro de Meirelles,André Arcieri,Rafael Saran Messias,Katharina Messias,André |
author_role |
author |
author2 |
Meirelles,André Arcieri,Rafael Saran Messias,Katharina Messias,André |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Castro,Vinícius Monteiro de Meirelles,André Arcieri,Rafael Saran Messias,Katharina Messias,André |
dc.subject.por.fl_str_mv |
Macular degeneration Spastic paraplegia, hereditary/diagnosis Diagnostic techniques, ophthalmological Case reports |
topic |
Macular degeneration Spastic paraplegia, hereditary/diagnosis Diagnostic techniques, ophthalmological Case reports |
description |
Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin’s syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin’s syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination. |
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=S0004-27492015000200014 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492015000200014 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.5935/0004-2749.20150031 |
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.78 n.2 2015 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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1754209028553048064 |