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Best\u2010corrected visual acuity (BCVA), refraction, colour fundus photography, spectral\u2010domain optical coherence tomography and genetic information were collected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Fifty\u2010two males were diagnosed at the median age of 7\u2009years (range 1\u201357) and followed for a median of 8\u2009years (range, 1\u201349). Baseline findings included macular retinoschisis in 92\u00a0(89%), macular atrophy in 25 (24%) and peripheral retinoschisis in 22 (21%) eyes. Vitreous haemorrhage occurred in 10 (10%) eyes, more frequently with peripheral schisis (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001). Nearly half of the patients, 22 (42%) were classified as visually impaired according to WHO. Median central retinal thickness was similar between initial (355\u2009\u03bcm) and latest visits (360\u2009\u03bcm) (<jats:italic>p<\/jats:italic>\u2009=\u20090.781). Low BCVA was associated with macular atrophy (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.001), ellipsoid zone disruption (<jats:italic>p<\/jats:italic>\u2009=\u20090.007) and peripheral retinoschisis (<jats:italic>p<\/jats:italic>\u2009=\u20090.006). The three Finnish founder mutations c.214G &gt;A, c.221G &gt;T, and c.325G &gt;C in exon 4 of retinoschisin 1 (<jats:italic>RS1<\/jats:italic>) were identified in 40 patients (77%). No associations were found between the genotypes and phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Three\u2010fourths of the patients carried the Finnish founder mutations in <jats:italic>RS1<\/jats:italic>, but we did not detect any genotype\u2013phenotype association. Macular atrophy was associated with the poorest visual acuity. Ocular compilations were associated with peripheral retinoschisis, suggesting that these patients should be followed more frequently.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.16776","type":"journal-article","created":{"date-parts":[[2024,10,22]],"date-time":"2024-10-22T08:10:26Z","timestamp":1729584626000},"page":"196-204","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A retrospective longitudinal study of 52 Finnish patients with X\u2010linked retinoschisis"],"prefix":"10.1111","volume":"103","author":[{"given":"Mira A.","family":"J\u00e4rvinen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3259-7617","authenticated-orcid":false,"given":"Rigmor 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