{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T19:40:07Z","timestamp":1756582807390,"version":"3.44.0"},"reference-count":19,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,8,1]],"date-time":"2025-08-01T00:00:00Z","timestamp":1754006400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Guizhou Province Science and Technology Support Program Project","award":["[2023] general 265"],"award-info":[{"award-number":["[2023] general 265"]}]},{"name":"Guizhou Province Basic Research Program Project","award":["Grant ZK [2021] general 423"],"award-info":[{"award-number":["Grant ZK [2021] general 423"]}]},{"name":"Guizhou Province Basic Research Program Project","award":["Grant ZK [2021] general 428"],"award-info":[{"award-number":["Grant ZK [2021] general 428"]}]},{"name":"Guizhou Province Basic Research Program Project","award":["Grant ZK [2022] general 647"],"award-info":[{"award-number":["Grant ZK [2022] general 647"]}]},{"name":"Guizhou Province Basic Research Program Project","award":["Grant ZK [2023] general 529"],"award-info":[{"award-number":["Grant ZK [2023] general 529"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["No.31871261"],"award-info":[{"award-number":["No.31871261"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:p>\n            Retinoschisin protein is mainly produced in the retina, with minimal expression in other tissues. It is located on the surface of the photoreceptor inner segments and bipolar cells. X-linked retinoschisis, caused by mutations in the\n            <jats:italic>RS1<\/jats:italic>\n            gene, primarily presents as cavities in the retina and separation of the layers. We report a case of a 2-year-old male patient with notable clinical differences in both eyes. During follow-up, genetic testing confirmed an\n            <jats:italic>RS1<\/jats:italic>\n            gene mutation causing retinal detachment and X-linked retinoschisis, with no family history of the disease. The clinical diagnosis of retinal detachment may seem straightforward, but its cause is complex and diverse. For patients with retinal detachment, clinicians need to determine its underlying cause. It is important to note that patients with X-linked retinoschisis may exhibit different phenotypes in each eye, and genetic testing is essential for the clinical diagnosis of X-linked retinoschisis.\n          <\/jats:p>","DOI":"10.1177\/2050313x251367626","type":"journal-article","created":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T07:06:58Z","timestamp":1756364818000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Retinal detachment associated with the splice site mutation c.53-1G&gt;A in the\n            <i>RS1<\/i>\n            gene: A case report and review of the literature"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2346-9915","authenticated-orcid":false,"given":"Jia","family":"Meng","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Affiliated Hospital of Zunyi Medical University, Guizhou Province, China"},{"name":"Special Key Laboratory of Ocular Diseases of Guizhou Province, Zunyi, Guizhou Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shanjun","family":"Cai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Affiliated Hospital of Zunyi Medical University, Guizhou Province, China"},{"name":"Special Key Laboratory of Ocular Diseases of Guizhou Province, Zunyi, Guizhou Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1421-6027","authenticated-orcid":false,"given":"Gang","family":"Su","sequence":"additional","affiliation":[{"name":"Special Key Laboratory of Ocular Diseases of Guizhou Province, Zunyi, Guizhou Province, China"},{"name":"Department of Ophthalmology, The Second Affiliated Hospital of Zunyi Medical University, Guizhou Province, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,8,28]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a041288"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2021.11.019"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2022.101147"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.993157"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1421"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2023.01.008"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0712-8"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2021.09.021"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1177\/1120672120916722"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2018.08.006"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2017-310593"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12886-017-0406-6"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0000000000003667"},{"key":"e_1_3_2_16_2","first-page":"291","article-title":"Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis","volume":"26","author":"Chen C","year":"2020","unstructured":"Chen C, Xie Y, Sun T, et al. Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis. Mol Vis 2020; 26: 291\u2013298.","journal-title":"Mol Vis"},{"key":"e_1_3_2_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2020.108344"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2018.07.021"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.63.11.8"},{"key":"e_1_3_2_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2019.09.010"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251367626","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X251367626","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X251367626","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,30]],"date-time":"2025-08-30T19:24:17Z","timestamp":1756581857000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X251367626"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":19,"alternative-id":["10.1177\/2050313X251367626"],"URL":"https:\/\/doi.org\/10.1177\/2050313x251367626","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2025,8]]},"article-number":"2050313X251367626"}}