{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T10:10:18Z","timestamp":1778753418997,"version":"3.51.4"},"reference-count":42,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T00:00:00Z","timestamp":1604016000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>To provides the clinical and genetic characteristics of a series of Chinese patients with X\u2010linked juvenile retinoschisis (XLRS) through multimodal imaging and next\u2010generation sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Thirty patients (60 eyes) from 29 unrelated families of Chinese origin with XLRS were screened using multigene panel testing, and underwent a complete clinical evaluation. All variants identified in this study and reported in the Human Gene Mutation Database were analysed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010five distinct variants in the retinoschisin gene were identified, of which eight were novel, and one was <jats:italic>de novo<\/jats:italic>. Missense mutations were the most prevalent type, and mutation hot spot was localized in the discoidin domain. The mean Snellen best\u2010corrected visual acuity was 0.28\u00a0\u00b1\u00a00.17. Of all eyes presenting with schisis, 92.86% had lamellar schisis and 62.5% had peripheral schisis. Schisis changes mostly involved inner and outer nuclear layers. X\u2010linked juvenile retinoschisis (XLRS) patients had a high incidence of complications, and peripheral schisis was a risk factor for it. No obvious genotype\u2013phenotype association was observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study provides comprehensive analyses of the genetic and clinical characteristics of XLRS in a cohort of Chinese patients. The fourth de novo mutation in RS1 was identified. And we show that XLRS has a wide spectrum of clinical characteristics; hence, molecular diagnosis is crucial for its diagnosis, differential diagnosis and genetic counselling. Peripheral schisis is a risk factor for the high incidence of complications, and no clear genotype\u2013phenotype correlations were found.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.14642","type":"journal-article","created":{"date-parts":[[2020,10,30]],"date-time":"2020-10-30T07:45:39Z","timestamp":1604043939000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Comprehensive analysis of genetic and clinical characteristics of 30 patients with X\u2010linked juvenile retinoschisis in China"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2799-3554","authenticated-orcid":false,"given":"Feng\u2010Juan","family":"Gao","sequence":"first","affiliation":[{"name":"Eye Institute Eye and ENT Hospital College of Medicine Fudan University Shanghai China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration Science and Technology Commission of Shanghai Municipality Shanghai 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