Ophthalmological manifestations of hereditary transthyretin amyloidosis

Detalhes bibliográficos
Autor(a) principal: Gondim,Francisco de Assis Aquino
Data de Publicação: 2022
Outros Autores: Holanda Filha,Joana Gurgel, Moraes Filho,Manoel Odorico
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=S0004-27492022000500528
Resumo: ABSTRACT Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1). The mutations lead to abnormal amyloid deposits, mainly in the heart and peripheral nerves. Leptomeningeal and mainly ocular involvement is common. Although there are several different types of treatment available, ocular involvement, which occurs also in liver transplant recipients, remains a major challenge, progressing even in liver transplant recipients. Patients with ocular involvement require efficient ophthalmological follow-up to prevent vision loss. In this review, different forms of ocular involvement characterizing the subtypes of transthyretin mutations were described, and the effects of different treatments were summarized. Further research is necessary to fully elucidate these issues.
id CBO-2_af92d2d9c1337c2db6e795c82ac4e112
oai_identifier_str oai:scielo:S0004-27492022000500528
network_acronym_str CBO-2
network_name_str Arquivos brasileiros de oftalmologia (Online)
repository_id_str
spelling Ophthalmological manifestations of hereditary transthyretin amyloidosisCataractAmyloidosisfamilialGlaucomaNeuropathyTransthyretinABSTRACT Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1). The mutations lead to abnormal amyloid deposits, mainly in the heart and peripheral nerves. Leptomeningeal and mainly ocular involvement is common. Although there are several different types of treatment available, ocular involvement, which occurs also in liver transplant recipients, remains a major challenge, progressing even in liver transplant recipients. Patients with ocular involvement require efficient ophthalmological follow-up to prevent vision loss. In this review, different forms of ocular involvement characterizing the subtypes of transthyretin mutations were described, and the effects of different treatments were summarized. Further research is necessary to fully elucidate these issues.Conselho Brasileiro de Oftalmologia2022-10-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492022000500528Arquivos Brasileiros de Oftalmologia v.85 n.5 2022reponame:Arquivos brasileiros de oftalmologia (Online)instname:Conselho Brasileiro de Oftalmologia (CBO)instacron:CBO10.5935/0004-2749.20220099info:eu-repo/semantics/openAccessGondim,Francisco de Assis AquinoHolanda Filha,Joana GurgelMoraes Filho,Manoel Odoricoeng2022-10-07T00:00:00Zoai:scielo:S0004-27492022000500528Revistahttp://aboonline.org.br/https://old.scielo.br/oai/scielo-oai.phpaboonline@cbo.com.br||abo@cbo.com.br1678-29250004-2749opendoar:2022-10-07T00:00Arquivos brasileiros de oftalmologia (Online) - Conselho Brasileiro de Oftalmologia (CBO)false
dc.title.none.fl_str_mv Ophthalmological manifestations of hereditary transthyretin amyloidosis
title Ophthalmological manifestations of hereditary transthyretin amyloidosis
spellingShingle Ophthalmological manifestations of hereditary transthyretin amyloidosis
Gondim,Francisco de Assis Aquino
Cataract
Amyloidosis
familial
Glaucoma
Neuropathy
Transthyretin
title_short Ophthalmological manifestations of hereditary transthyretin amyloidosis
title_full Ophthalmological manifestations of hereditary transthyretin amyloidosis
title_fullStr Ophthalmological manifestations of hereditary transthyretin amyloidosis
title_full_unstemmed Ophthalmological manifestations of hereditary transthyretin amyloidosis
title_sort Ophthalmological manifestations of hereditary transthyretin amyloidosis
author Gondim,Francisco de Assis Aquino
author_facet Gondim,Francisco de Assis Aquino
Holanda Filha,Joana Gurgel
Moraes Filho,Manoel Odorico
author_role author
author2 Holanda Filha,Joana Gurgel
Moraes Filho,Manoel Odorico
author2_role author
author
dc.contributor.author.fl_str_mv Gondim,Francisco de Assis Aquino
Holanda Filha,Joana Gurgel
Moraes Filho,Manoel Odorico
dc.subject.por.fl_str_mv Cataract
Amyloidosis
familial
Glaucoma
Neuropathy
Transthyretin
topic Cataract
Amyloidosis
familial
Glaucoma
Neuropathy
Transthyretin
description ABSTRACT Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1). The mutations lead to abnormal amyloid deposits, mainly in the heart and peripheral nerves. Leptomeningeal and mainly ocular involvement is common. Although there are several different types of treatment available, ocular involvement, which occurs also in liver transplant recipients, remains a major challenge, progressing even in liver transplant recipients. Patients with ocular involvement require efficient ophthalmological follow-up to prevent vision loss. In this review, different forms of ocular involvement characterizing the subtypes of transthyretin mutations were described, and the effects of different treatments were summarized. Further research is necessary to fully elucidate these issues.
publishDate 2022
dc.date.none.fl_str_mv 2022-10-01
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=S0004-27492022000500528
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492022000500528
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.5935/0004-2749.20220099
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.85 n.5 2022
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
_version_ 1754209032255569920

Registros relacionados