Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
| dc.rights.license | open | en_US |
| dc.contributor.author | SEGUY, Paul-Henri | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| dc.contributor.author | KOROBELNIK, Jean-Francois
ORCID: 0000-0002-4438-9535 IDREF: 028739272 | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| dc.contributor.author | DELYFER, Marie-Noelle | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | MICHAUD, Vincent | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| dc.contributor.author | LASSEAUX, Eulalie | |
| dc.contributor.author | GATTOUSSI, Sarra | |
| dc.contributor.author | ROUGIER, Marie-Benedicte | |
| dc.contributor.author | TRIN, Kilian | |
| dc.contributor.author | MORICE-PICARD, Fanny | |
| dc.contributor.author | GHOMASHCHI, Nathalie | |
| dc.contributor.author | COSTE, Valentine | |
| dc.date.accessioned | 2024-02-15T15:21:41Z | |
| dc.date.available | 2024-02-15T15:21:41Z | |
| dc.date.issued | 2023-09-01 | |
| dc.identifier.issn | 1552-5783 | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/188166 | |
| dc.description.abstractEn | PURPOSE. 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.iso | EN | en_US |
| dc.rights | Attribution-NonCommercial-NoDerivs 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/3.0/us/ | * |
| dc.subject.en | albinism | |
| dc.subject.en | OCT | |
| dc.subject.en | foveal hypoplasia | |
| dc.subject.en | choroid | |
| dc.subject.en | genetic diseases | |
| dc.title.en | Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center | |
| dc.title.alternative | Invest Ophthalmol Vis Sci | en_US |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1167/iovs.64.12.26 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Santé publique et épidémiologie | en_US |
| dc.identifier.pubmed | 37707835 | en_US |
| bordeaux.journal | Investigative Ophthalmology & Visual Science | en_US |
| bordeaux.page | 26 | en_US |
| bordeaux.volume | 64 | en_US |
| bordeaux.hal.laboratories | Bordeaux Population Health Research Center (BPH) - UMR 1219 | en_US |
| bordeaux.issue | 12 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.team | LEHA_BPH | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-04460168 | |
| hal.version | 1 | |
| hal.date.transferred | 2024-02-15T15:21:44Z | |
| hal.popular | non | en_US |
| hal.audience | Internationale | en_US |
| hal.export | true | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_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 |
