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Prevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysis

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dc.creatorMonje-Tobar, Paulaspa
dc.creatorVerbel, Angiespa
dc.creatorTéllez-Zambrano, Juanitaspa
dc.creatorAlfaro-Murillo, Albertospa
dc.creatorAmaris, Stefaniaspa
dc.creatorCorrea-Jiménez, Oscarspa
dc.creatorCifuentes-González, Carlosspa
dc.creatorMejía-Salgado, Germánspa
dc.creatorDe La Torre Cifuentes, Ligia Alejandraspa
dc.creatorZárate-Pinzón, Lauraspa
dc.date.accessioned2025-07-21T16:52:08Z
dc.date.available2025-07-21T16:52:08Z
dc.date.created2025-05-13spa
dc.date.issued2025-05-13spa
dc.description.abstractBackground Although some reports indicate ocular involvement in Inborn Errors of Immunity (IEI) patients, the characteristics of this association remain unclear. Increased awareness can facilitate early diagnosis and prevention of visual complications. Objective To determine the prevalence and characterize ophthalmological manifestations in patients with IEI. Methods A systematic literature search was performed across Embase, PubMed, and Lilacs. Observational studies with at least 10 IEI patients exhibiting ophthalmological manifestations were reviewed. A meta-analysis using a random effects model, weighted proportion, and 95% confidence intervals were reported as appropriate. Results Sixty-two articles out of the 6,884 studies were included. The pooled prevalence of ocular manifestations in IEI patients was 54% (95%CI=39–69), with a mean age of 11.1±7.8 years and male predominance. Regarding the type of IEI with ocular involvement, the most frequently affected group was the Combined immunodeficiencies with associated or syndromic features (82%, 95%CI=66–91), followed by the diseases of immune dysregulation (73%, 95%CI=27–95), autoinflammatory disorders (48%, 95%CI=10–88), and congenital defects of phagocytes (39%, 95%CI=11–76). Europe had the highest prevalence of patients with ocular manifestations (68%, 95%CI=32–90). The most common ocular manifestations observed in IEI patients were those affecting ocular mobility, followed by those that involved the anterior segment, posterior segment, eyelids, and adnexal structures. Conclusions These results highlight a significant burden of ocular involvement in IEI patients, mainly during childhood and associated with amblyogenic factors. Therefore, ophthalmologists, pediatricians, and immunologists must be involved in early detection to prevent ocular complications and overall well-being.eng
dc.format.mimetypeapplication/pdfspa
dc.identifier.doihttps://doi.org/10.1007/s10875-025-01880-4spa
dc.identifier.issn0271-9142spa
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/46099
dc.language.isoengspa
dc.publisherSpringerspa
dc.relation.ispartofJournal of Clinical Immunology (2025) 45:92spa
dc.relation.urihttps://link.springer.com/article/10.1007/s10875-025-01880-4spa
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internationalspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccessspa
dc.rights.accesoAbierto (Texto Completo)spa
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/spa
dc.sourceJournal of Clinical Immunologyspa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordPrimary immunodeficiency diseaseseng
dc.subject.keywordEye diseaseeng
dc.subject.keywordOcular manifestationseng
dc.subject.keywordPrevalenceeng
dc.subject.keywordInborn errors of immunityeng
dc.subject.keywordMeta-analysiseng
dc.titlePrevalence of Ophthalmological Manifestations in Patients with Inborn Errors of Immunity: A Systematic Review and Meta-Analysisspa
dc.typearticlespa
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersionspa
dc.type.spaArtículo de Investigaciónspa
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