Vis enkel innførsel

dc.contributor.authorPedersen, Hilde Røgeberg
dc.contributor.authorBaraas, Rigmor C.
dc.contributor.authorLandsend, Erlend Christoffer Sommer
dc.contributor.authorUtheim, Øygunn Aass
dc.contributor.authorUtheim, Tor Paaske
dc.contributor.authorGilson, Stuart
dc.contributor.authorNeitz, Maureen
dc.date.accessioned2021-02-10T12:58:18Z
dc.date.available2021-02-10T12:58:18Z
dc.date.created2020-09-01T14:56:30Z
dc.date.issued2020
dc.identifier.citationPedersen, H. R., Baraas, R. C., Landsend, E. C. S., Utheim, Ø. A., Utheim, T. P., Gilson, S. J. & Neitz, M. (2020). PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia. Investigative Ophthalmology & Visual Science, 61(5).en_US
dc.identifier.issn0146-0404
dc.identifier.urihttps://hdl.handle.net/11250/2727207
dc.description.abstractPURPOSE: To investigate the association between PAX6 genotype and macular morphology in congenital aniridia. METHODS: The study included 37 participants (15 males) with congenital aniridia (aged 10–72 years) and 58 age-matched normal controls (18 males). DNA was isolated from saliva samples. PAX6 exons, intron/exon junctions, and known regulatory regions were amplified in PCR and sequenced. Multiplex ligation-dependent probe amplification (MLPA) was performed to detect larger deletions or duplications in PAX6 or known cisregulatory regions. Spectral-domain optical coherence tomography images were acquired and segmented semiautomatically. Mean thicknesses were calculated for inner and outer retinal layers within the macula along nasal and temporal meridians. RESULTS: Mutations in PAX6 or regulatory regions were found in 97% of the participants with aniridia. Foveal hypoplasia was observed in all who had a mutation within the PAX6 gene. Aniridic eyes had thinner outer retinal layers than controls, but with large between-individual variation (mean ± SD, 156.3 ± 32.3 μm vs 210.8 ± 12.3 μm, P < 0.001). Parafoveal and perifoveal inner and outer retinal layers were thinner in aniridia. Participants with mutations in noncoding PAX6 regions had thicker foveal outer retinal layers than those with mutations in the PAX6 coding regions (P = 0.04) and showed signs of postnatal development and maturation. Mutations outside the PAX6 gene were associated with the mildest retinal phenotypes. CONCLUSIONS: PAX6 mutations are associated with significant thinning of macular inner and outer retinal layers, consistent with misdirected retinal development resulting in abnormal foveal formation and reduced number of neurons in the macula,with mutations in PAX6 coding regions giving the worst outcome.en_US
dc.language.isoengen_US
dc.relation.urihttps://iovs.arvojournals.org/article.aspx?articleid=2766104&resultClick=1
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internasjonal*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/deed.no*
dc.titlePAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridiaen_US
dc.typePeer revieweden_US
dc.typeJournal articleen_US
dc.description.versionpublishedVersionen_US
dc.rights.holderCopyright 2020 The Authors.en_US
dc.source.volume61en_US
dc.source.journalInvestigative Ophthalmology and Visual Scienceen_US
dc.source.issue5en_US
dc.identifier.doihttps://doi.org/10.1167/iovs.61.5.14
dc.identifier.cristin1826530
cristin.ispublishedtrue
cristin.fulltextoriginal
cristin.qualitycode2


Tilhørende fil(er)

Thumbnail

Denne innførselen finnes i følgende samling(er)

Vis enkel innførsel

Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal
Med mindre annet er angitt, så er denne innførselen lisensiert som Attribution-NonCommercial-NoDerivatives 4.0 Internasjonal