Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/46615
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dc.contributor.authorCetin, Gokhan Ozan-
dc.contributor.authorCetin, Ebru Nevin-
dc.contributor.authorAkyol, Tunahan-
dc.contributor.authorIlhan, Hatice Deniz-
dc.contributor.authorPekel, Gokhan-
dc.date.accessioned2023-01-09T21:15:31Z-
dc.date.available2023-01-09T21:15:31Z-
dc.date.issued2022-
dc.identifier.issn1381-6810-
dc.identifier.issn1744-5094-
dc.identifier.urihttps://doi.org/10.1080/13816810.2021.2010772-
dc.identifier.urihttps://hdl.handle.net/11499/46615-
dc.description.abstractBackground X-linked retinoschisis is an inherited retinal disease caused by mutations in the RS1 gene; however, a genotype-phenotype correlation regarding the mutation type or location within the RS1 gene and clinical characteristics of the patients has not been established yet. This is the first report documenting the genotypes and ophthalmological findings in a Turkish population with confirmed RS1 mutations. Materials and Methods Fifty eyes of 25 male patients were included in the study. RS1 mutation analysis was performed by DNA sequencing. Retrospective analysis of ocular examinations and SD-OCT scans were applied. Results The major mutation was c.422 G > A (p.Arg141His, exon 5) affecting 14 patients (56%) and c.531 T > G was the only non-sense mutation out of 7 pathogenic variants. At presentation; the mean age was 24.6 +/- 16.2 (4-72) years, mean visual acuity (VA) was 0.61 +/- 0.32 (logMAR, 0.10-1.30). Forty-six (92%) eyes had macular, 16 eyes (32%) had peripheral retinoschisis. None of the eyes had macular scar, whereas 7 eyes (14%) had macular atrophy. The most frequent location of schisis was inner nuclear layer (37.5%). The eyes with disruption of ellipsoid zone (EZ) or external limiting membrane (ELM) had worse VA (for EZ, 0.65 +/- 0.25 versus 0.45 +/- 0.34, logMAR, 31 versus 17 eyes, p = .013; for ELM, 0.66 +/- 0.27 versus 0.45 +/- 0.31, logMAR, 30 versus 18 eyes, p = .008). Conclusions Seven different pathogenic variants in the RS1 gene were identified; with c.422 G > A (p.Arg141His) as the most frequent variant and c.531 T > G as only non-sense mutation. Having EZ or ELM disruption were the significant factors affecting VA.en_US
dc.language.isoenen_US
dc.publisherTaylor & Francis Incen_US
dc.relation.ispartofOphthalmic Geneticsen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectRetinoschisisen_US
dc.subjectRS1 geneen_US
dc.subjectmutationen_US
dc.subjectellipsoid zoneen_US
dc.subjectphotoreceptor outer segment thicknessen_US
dc.subjectVisual-Acuityen_US
dc.subjectRs1en_US
dc.titleGenotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish populationen_US
dc.typeArticleen_US
dc.identifier.volume43en_US
dc.identifier.issue3en_US
dc.identifier.startpage318en_US
dc.identifier.endpage325en_US
dc.identifier.doi10.1080/13816810.2021.2010772-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.authorscopusid14017831000-
dc.authorscopusid36805689200-
dc.authorscopusid57371999900-
dc.authorscopusid8357800400-
dc.authorscopusid32867942800-
dc.identifier.pmid34865595en_US
dc.identifier.scopus2-s2.0-85121100767en_US
dc.identifier.wosWOS:000727085700001en_US
dc.identifier.scopusqualityQ3-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.grantfulltextnone-
item.languageiso639-1en-
item.openairetypeArticle-
item.fulltextNo Fulltext-
item.cerifentitytypePublications-
crisitem.author.dept14.02. Internal Medicine-
crisitem.author.dept14.01. Surgical Medicine-
crisitem.author.dept14.01. Surgical Medicine-
crisitem.author.dept14.01. Surgical Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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