X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity

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dc.authoridOnen, Mehmet/0000-0001-8797-9634
dc.contributor.authorOnen, Mehmet
dc.contributor.authorZor, Kursat
dc.contributor.authorKucuk, Erkut
dc.contributor.authorYildirim, Gamze
dc.date.accessioned2024-11-07T13:32:50Z
dc.date.available2024-11-07T13:32:50Z
dc.date.issued2020
dc.departmentNiğde Ömer Halisdemir Üniversitesi
dc.description.abstractX-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS. Typical signs of XLRS were detected in 2 girls, aged 4 and 15. Fundoscopic examination of the father and the oldest daughter (age 17) revealed bilateral atrophic macula and retinal thinning. Although rare and considered characteristic for males, XLRS can be seen in females in Middle-East countries that have a high rate of consanguineous marriage. It can be overlooked by ophthalmologists and these patients may be misdiagnosed.
dc.identifier.doi10.4274/tjo.galenos.2020.42815
dc.identifier.endpage254
dc.identifier.issn1300-0659
dc.identifier.issn2147-2661
dc.identifier.issue4
dc.identifier.pmid32854471
dc.identifier.scopus2-s2.0-85089851263
dc.identifier.scopusqualityN/A
dc.identifier.startpage252
dc.identifier.trdizinid376121
dc.identifier.urihttps://doi.org/10.4274/tjo.galenos.2020.42815
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/376121
dc.identifier.urihttps://hdl.handle.net/11480/15644
dc.identifier.volume50
dc.identifier.wosWOS:000563088000011
dc.identifier.wosqualityN/A
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherTurkish Ophthalmological Soc
dc.relation.ispartofTurk Oftalmoloji Dergisi-Turkish Journal of Ophthalmology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_20241106
dc.subjectX-linked retinoschisis
dc.subjectconsanguineous marriage
dc.subjectcystoid macular edema
dc.subjectmacular atrophy
dc.subjectoptical coherence tomography
dc.titleX-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity
dc.typeArticle

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