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Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.

dc.rights.licenseopenen_US
dc.contributor.authorSMIRNOV, Vasily M
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLASSEAUX, Eulalie
hal.structure.identifierCHU de Bordeaux Pellegrin [Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
IDREF: 243713878
dc.contributor.authorCOURDIER, Cécile
dc.contributor.authorMEUNIER, Isabelle
hal.structure.identifierCentre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.contributor.authorDEFOORT-DHELLEMMES, Sabine
dc.date.accessioned2024-10-11T12:43:08Z
dc.date.available2024-10-11T12:43:08Z
dc.date.issued2024-08-01
dc.identifier.issn1573-2622en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/202434
dc.description.abstractEnInfantile nystagmus and foveal hypoplasia associated with AHR gene defects is a newly recognized and rare disorder. Our aim was to present a patient with a novel biallelic AHR pathogenic variant with electrophysiological evidence of chiasmal misrouting. Complete ocular examination, fundus imaging, visual evoked potentials (VEP) and full-field electroretinography were performed at initial presentation. Genetic testing was performed by whole exome sequencing. Female patient of 6 years old presented a reduced best corrected visual acuity, an infantile nystagmus and a grade III typical foveal hypoplasia without ocular hypopigmentation. A crossed asymmetry was discovered on pattern onset/offset VEP. Genetic testing put in evidence a novel homozygous variant in AHR: c.2242del, p. (Gln748Lysfs5). During 11-years follow-up period, BCVA gradually improved. There was no evidence of retinal degeneration. AHR gene defects could be associated with infantile nystagmus, foveal hypoplasia and chiasmal misrouting.
dc.language.isoENen_US
dc.subject.enAHR gene
dc.subject.enCrossed VEP asymmetry
dc.subject.enFoveal hypoplasia
dc.subject.enInfantile nystagmus
dc.title.enCrossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia.
dc.title.alternativeDoc Ophthalmolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1007/s10633-024-09979-6en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed38922562en_US
bordeaux.journalDocumenta Ophthalmologicaen_US
bordeaux.page47-52en_US
bordeaux.volume149en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04732593
hal.version1
hal.date.transferred2024-10-11T12:43:11Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccPas de Licence CCen_US
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