Severe ocular involvement in hereditary gelsolin amyloidosis

Detalhes bibliográficos
Autor(a) principal: Silva, Nisa
Data de Publicação: 2021
Outros Autores: Beirão, João
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.16/2898
Resumo: Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature.
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spelling Severe ocular involvement in hereditary gelsolin amyloidosisHereditary gelsolin amyloidosisMeretoja syndromecorneal lattice amyloidosisfamylial amyloidosis finish-typeHereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature.Wolters KluwerRepositório Científico da Unidade Local de Saúde de Santo AntónioSilva, NisaBeirão, João2023-12-21T11:27:10Z2021-102021-10-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/2898eng2444-86722444-866410.1097/j.pbj.0000000000000146info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-11-21T05:02:26Zoai:repositorio.chporto.pt:10400.16/2898Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-11-21T05:02:26Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Severe ocular involvement in hereditary gelsolin amyloidosis
title Severe ocular involvement in hereditary gelsolin amyloidosis
spellingShingle Severe ocular involvement in hereditary gelsolin amyloidosis
Silva, Nisa
Hereditary gelsolin amyloidosis
Meretoja syndrome
corneal lattice amyloidosis
famylial amyloidosis finish-type
title_short Severe ocular involvement in hereditary gelsolin amyloidosis
title_full Severe ocular involvement in hereditary gelsolin amyloidosis
title_fullStr Severe ocular involvement in hereditary gelsolin amyloidosis
title_full_unstemmed Severe ocular involvement in hereditary gelsolin amyloidosis
title_sort Severe ocular involvement in hereditary gelsolin amyloidosis
author Silva, Nisa
author_facet Silva, Nisa
Beirão, João
author_role author
author2 Beirão, João
author2_role author
dc.contributor.none.fl_str_mv Repositório Científico da Unidade Local de Saúde de Santo António
dc.contributor.author.fl_str_mv Silva, Nisa
Beirão, João
dc.subject.por.fl_str_mv Hereditary gelsolin amyloidosis
Meretoja syndrome
corneal lattice amyloidosis
famylial amyloidosis finish-type
topic Hereditary gelsolin amyloidosis
Meretoja syndrome
corneal lattice amyloidosis
famylial amyloidosis finish-type
description Hereditary gelsolin amyloidosis is a rare subtype of hereditary systemic amyloidosis. An old male presented with the characteristic triad of symptoms, including bilateral facial palsy, cutis laxa, and corneal lattice amyloidosis. The diagnosis was confirmed by the detection of the mutation in gelsolin gene located on chromosome 9. Although the presenting symptoms were highly suggestive of the disease, reports of severe ocular involvement are scarce in the literature.
publishDate 2021
dc.date.none.fl_str_mv 2021-10
2021-10-01T00:00:00Z
2023-12-21T11:27:10Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10400.16/2898
url http://hdl.handle.net/10400.16/2898
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2444-8672
2444-8664
10.1097/j.pbj.0000000000000146
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Wolters Kluwer
publisher.none.fl_str_mv Wolters Kluwer
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv mluisa.alvim@gmail.com
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