Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center
Autor(a) principal: | |
---|---|
Data de Publicação: | 2018 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://dx.doi.org/10.3928/23258160-20171215-12 https://repositorio.unifesp.br/handle/11600/53925 |
Resumo: | In a prospective case series of patients with Blau-Jabs syndrome (BJS) conducted in the Ophthalmology Department/Federal University of Sao Paulo, seven patients math clinical and ophthalmologic manifestations of the disease and a positive genetic test result for the presence of a mutation in the CARD15/NOD2 gene were followed for a minimal period of 1 year. All patients had uveitis, five had nummular corneal subepithelial opacities, and four had multifocal choroiditis. Oral prednisolone was administered to all patients |
id |
UFSP_eaf0a9f57c82a0f3e0bc5802552bbac0 |
---|---|
oai_identifier_str |
oai:repositorio.unifesp.br/:11600/53925 |
network_acronym_str |
UFSP |
network_name_str |
Repositório Institucional da UNIFESP |
repository_id_str |
3465 |
spelling |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic CenterIn a prospective case series of patients with Blau-Jabs syndrome (BJS) conducted in the Ophthalmology Department/Federal University of Sao Paulo, seven patients math clinical and ophthalmologic manifestations of the disease and a positive genetic test result for the presence of a mutation in the CARD15/NOD2 gene were followed for a minimal period of 1 year. All patients had uveitis, five had nummular corneal subepithelial opacities, and four had multifocal choroiditis. Oral prednisolone was administered to all patientsinflammation was controlled in six patients with at least one immunosuppressive drug. Infliximab (RemicadeJanssen Pharmaceuticals, Beerse, Belgium) and etanercept (EnbrelAmgen, Thousand Oaks, CA) were used to treat two cases refractory to the antiinflammatory drugs. A subconjunctival dexamethasone implant (OzurdexAllergan, Irvine, CA) and a periocular injection of triamcinolone were used in one case to achieve inflammation control. Six patients achieved a visual acuity of 20/25 or better. The authors conclude that periocular treatment with steroid injections might be effective adjuvant therapy to control ocular inflammation.Univ Fed Sao Paulo, UNIFESP Escola Paulista Med Brazil, Dept Ophthalmol, Sao Paulo, BrazilUniv Fed Sao Paulo, UNIFESP Escola Paulista Med Brazil, Dept Ophthalmol, Sao Paulo, BrazilWeb of ScienceSlack Inc2020-07-02T18:52:11Z2020-07-02T18:52:11Z2018info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion70-75application/pdfhttp://dx.doi.org/10.3928/23258160-20171215-12Ophthalmic Surgery Lasers & Imaging Retina. Thorofare, v. 49, n. 1, p. 70-75, 2018.10.3928/23258160-20171215-12WOS000419990200012.pdf2325-8160https://repositorio.unifesp.br/handle/11600/53925WOS:000419990200012engOphthalmic Surgery Lasers & Imaging RetinaThorofareinfo:eu-repo/semantics/openAccessNascimento, Heloisa [UNIFESP]Sousa, Jacqueline M. [UNIFESP]Fernandez, Delia Gonzalez [UNIFESP]Salomao, Gustavo H. A. [UNIFESP]Sato, Elcio H. [UNIFESP]Muccioli, Cristina [UNIFESP]Belfort, Rubens, Jr. [UNIFESP]reponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2024-08-03T05:16:54Zoai:repositorio.unifesp.br/:11600/53925Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652024-08-03T05:16:54Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.none.fl_str_mv |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center |
title |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center |
spellingShingle |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center Nascimento, Heloisa [UNIFESP] |
title_short |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center |
title_full |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center |
title_fullStr |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center |
title_full_unstemmed |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center |
title_sort |
Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center |
author |
Nascimento, Heloisa [UNIFESP] |
author_facet |
Nascimento, Heloisa [UNIFESP] Sousa, Jacqueline M. [UNIFESP] Fernandez, Delia Gonzalez [UNIFESP] Salomao, Gustavo H. A. [UNIFESP] Sato, Elcio H. [UNIFESP] Muccioli, Cristina [UNIFESP] Belfort, Rubens, Jr. [UNIFESP] |
author_role |
author |
author2 |
Sousa, Jacqueline M. [UNIFESP] Fernandez, Delia Gonzalez [UNIFESP] Salomao, Gustavo H. A. [UNIFESP] Sato, Elcio H. [UNIFESP] Muccioli, Cristina [UNIFESP] Belfort, Rubens, Jr. [UNIFESP] |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Nascimento, Heloisa [UNIFESP] Sousa, Jacqueline M. [UNIFESP] Fernandez, Delia Gonzalez [UNIFESP] Salomao, Gustavo H. A. [UNIFESP] Sato, Elcio H. [UNIFESP] Muccioli, Cristina [UNIFESP] Belfort, Rubens, Jr. [UNIFESP] |
description |
In a prospective case series of patients with Blau-Jabs syndrome (BJS) conducted in the Ophthalmology Department/Federal University of Sao Paulo, seven patients math clinical and ophthalmologic manifestations of the disease and a positive genetic test result for the presence of a mutation in the CARD15/NOD2 gene were followed for a minimal period of 1 year. All patients had uveitis, five had nummular corneal subepithelial opacities, and four had multifocal choroiditis. Oral prednisolone was administered to all patients |
publishDate |
2018 |
dc.date.none.fl_str_mv |
2018 2020-07-02T18:52:11Z 2020-07-02T18:52:11Z |
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://dx.doi.org/10.3928/23258160-20171215-12 Ophthalmic Surgery Lasers & Imaging Retina. Thorofare, v. 49, n. 1, p. 70-75, 2018. 10.3928/23258160-20171215-12 WOS000419990200012.pdf 2325-8160 https://repositorio.unifesp.br/handle/11600/53925 WOS:000419990200012 |
url |
http://dx.doi.org/10.3928/23258160-20171215-12 https://repositorio.unifesp.br/handle/11600/53925 |
identifier_str_mv |
Ophthalmic Surgery Lasers & Imaging Retina. Thorofare, v. 49, n. 1, p. 70-75, 2018. 10.3928/23258160-20171215-12 WOS000419990200012.pdf 2325-8160 WOS:000419990200012 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Ophthalmic Surgery Lasers & Imaging Retina |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
70-75 application/pdf |
dc.coverage.none.fl_str_mv |
Thorofare |
dc.publisher.none.fl_str_mv |
Slack Inc |
publisher.none.fl_str_mv |
Slack Inc |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
biblioteca.csp@unifesp.br |
_version_ |
1814268363728224256 |