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dc.rights.licenseopenen_US
dc.contributor.authorSEGUY, Paul-Henri
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorKOROBELNIK, Jean-Francois
ORCID: 0000-0002-4438-9535
IDREF: 028739272
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDELYFER, Marie-Noelle
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
IDREF: 243713878
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.contributor.authorLASSEAUX, Eulalie
dc.contributor.authorGATTOUSSI, Sarra
dc.contributor.authorROUGIER, Marie-Benedicte
dc.contributor.authorTRIN, Kilian
dc.contributor.authorMORICE-PICARD, Fanny
dc.contributor.authorGHOMASHCHI, Nathalie
dc.contributor.authorCOSTE, Valentine
dc.date.accessioned2024-02-15T15:21:41Z
dc.date.available2024-02-15T15:21:41Z
dc.date.issued2023-09-01
dc.identifier.issn1552-5783en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/188166
dc.description.abstractEnPURPOSE. Albinism is a group of genetic disorders that includes several conditions related to a defect in melanin production. There is a broad phenotypic and genotypic variability between the different forms. The aim of this study was to assess the ophthalmologic characteristics according to patients' genotypes in a cohort followed in the Reference Center for oculocutaneous albinism (OCA) of Bordeaux University Hospital, France.METHODS. A retrospective observational study was conducted in a cohort of patients with OCA seen in consultation in the ophthalmology department between 2017 and 2021 in whom a genetic analysis was performed.RESULTS. In total, 127 patients with OCA were included in this study and matched with the results of the genetic analysis. In the population aged over 6 years, there was no statistical difference in binocular visual acuity between the OCA1, OCA2, and OCA4 forms (P = 0.27). There was difference in ametropia between the three forms (P = 0.003). A twoby-two comparison using the Bonferroni correction showed a significant difference in ametropia between the OCA2 and OCA4 forms (P = 0.007) and between the OCA1 and OCA2 forms (P = 0.0075). Regardless of the form, most patients (75.4%) had grade 4 foveal hypoplasia. There was no association between the grade of foveal hypoplasia and the gene involved (P = 0.87).CONCLUSIONS. We described a genotype-phenotype correlation for the three most represented forms of albinism in our cohort. This study allowed assessing the degree of visual deficiency in young children with OCA.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/us/*
dc.subject.enalbinism
dc.subject.enOCT
dc.subject.enfoveal hypoplasia
dc.subject.enchoroid
dc.subject.engenetic diseases
dc.title.enOphthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
dc.title.alternativeInvest Ophthalmol Vis Scien_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1167/iovs.64.12.26en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed37707835en_US
bordeaux.journalInvestigative Ophthalmology & Visual Scienceen_US
bordeaux.page26en_US
bordeaux.volume64en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue12en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.teamLEHA_BPHen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-04460168
hal.version1
hal.date.transferred2024-02-15T15:21:44Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Investigative%20Ophthalmology%20&%20Visual%20Science&rft.date=2023-09-01&rft.volume=64&rft.issue=12&rft.spage=26&rft.epage=26&rft.eissn=1552-5783&rft.issn=1552-5783&rft.au=SEGUY,%20Paul-Henri&KOROBELNIK,%20Jean-Francois&DELYFER,%20Marie-Noelle&MICHAUD,%20Vincent&ARVEILER,%20Benoit&rft.genre=article


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