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Ophthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case report

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dc.creatorMarín-Noriega, María Alejandraspa
dc.creatorMuñoz-Ortiz, Julianaspa
dc.creatorMosquera, Catalinaspa
dc.creatorde-la-Torre, Alejandraspa
dc.date.accessioned2020-05-26T00:09:35Z
dc.date.available2020-05-26T00:09:35Z
dc.date.created2020spa
dc.description.abstractPurpose: To report the ophthalmological approach of a patient with Blau syndrome (BS) in Colombia. Observations: We describe a 9-year-old Colombian boy with sporadic BS due to a de novo nucleotide-binding oligomerization domain containing 2 (NOD2) mutation, who presented with joint and dermatologic symptoms. He was referred to the uveitis service with a single functional eye, due to retinal detachment in the other eye. Despite treatment with corticosteroids, methotrexate, and adalimumab, the patient continued to exhibit progressive disease. Conclusion: BS-related uveitis is characterized by severe ocular morbidity. Appropriate interdisciplinary treatment is necessary for the correct identification and management of the disease, considering the inherent difficulty in its diagnosis due to its diverse clinical manifestations. The severity of BS-related uveitis in this report highlights the need for more effective therapies. © 2020eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.ajoc.2020.100714
dc.identifier.issn24519936
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24163
dc.language.isoengspa
dc.publisherElsevier Incspa
dc.relation.citationTitleAmerican Journal of Ophthalmology Case Reports
dc.relation.citationVolumeVol. 18
dc.relation.ispartofAmerican Journal of Ophthalmology Case Reports, ISSN:24519936, Vol.18,(2020)spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85083303928&doi=10.1016%2fj.ajoc.2020.100714&partnerID=40&md5=176fd77ad9ebba2b446b23aa43c90a66spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAdalimumabspa
dc.subject.keywordArgininespa
dc.subject.keywordC reactive proteinspa
dc.subject.keywordFolic acidspa
dc.subject.keywordMethotrexatespa
dc.subject.keywordPrednisolonespa
dc.subject.keywordTryptophanspa
dc.subject.keywordAnemiaspa
dc.subject.keywordAnterior eye segmentspa
dc.subject.keywordAphakiaspa
dc.subject.keywordArthritisspa
dc.subject.keywordArticlespa
dc.subject.keywordBand keratopathyspa
dc.subject.keywordBest corrected visual acuityspa
dc.subject.keywordBlau syndromespa
dc.subject.keywordBlunt traumaspa
dc.subject.keywordCase reportspa
dc.subject.keywordCataractspa
dc.subject.keywordCataract extractionspa
dc.subject.keywordChildspa
dc.subject.keywordClinical articlespa
dc.subject.keywordColombianspa
dc.subject.keywordConjunctival hyperemiaspa
dc.subject.keywordElbowspa
dc.subject.keywordErythrocyte sedimentation ratespa
dc.subject.keywordEye examinationspa
dc.subject.keywordEye fundusspa
dc.subject.keywordFemalespa
dc.subject.keywordFeverspa
dc.subject.keywordFollow upspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordGenetic variabilityspa
dc.subject.keywordGranulomaspa
dc.subject.keywordHumanspa
dc.subject.keywordHuman tissuespa
dc.subject.keywordHyphemaspa
dc.subject.keywordInterphalangeal jointspa
dc.subject.keywordJoint biopsyspa
dc.subject.keywordKneespa
dc.subject.keywordLaborspa
dc.subject.keywordLeg diseasespa
dc.subject.keywordMetacarpophalangeal jointspa
dc.subject.keywordMotherspa
dc.subject.keywordNuclear magnetic resonance imagingspa
dc.subject.keywordOligomerizationspa
dc.subject.keywordOphthalmologistspa
dc.subject.keywordPannusspa
dc.subject.keywordPremature laborspa
dc.subject.keywordProtein blood levelspa
dc.subject.keywordRashspa
dc.subject.keywordRelapsespa
dc.subject.keywordRetina detachmentspa
dc.subject.keywordRheumatologistspa
dc.subject.keywordSarcoidosisspa
dc.subject.keywordSchool childspa
dc.subject.keywordSkin defectspa
dc.subject.keywordTenosynovitisspa
dc.subject.keywordThrombocytosisspa
dc.subject.keywordUveitisspa
dc.subject.keywordVitrectomyspa
dc.subject.keywordVitreous body detachmentspa
dc.subject.keywordVitritisspa
dc.subject.keywordWristspa
dc.subject.keywordArthritisspa
dc.subject.keywordBlau syndromespa
dc.subject.keywordPanuveitisspa
dc.subject.keywordRetinal detachmentspa
dc.subject.keywordTherapyspa
dc.titleOphthalmological treatment of early-onset sarcoidosis/Blau syndrome in a Colombian child: A case reportspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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