{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T17:13:29Z","timestamp":1787850809015,"version":"build-2784847793"},"reference-count":50,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T00:00:00Z","timestamp":1704931200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>X-linked retinoschisis (XLRS) is a potential target for gene supplementation approaches. To establish potential structural and functional endpoints for clinical trials, a comprehensive understanding of the inter-eye symmetry, relationship between structural and functional parameters, and disease progression is vital.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In this retrospective multicentre study, 118 eyes of 59 XLRS patients with\n                      <jats:italic>RS1<\/jats:italic>\n                      mutations were assessed. Information from center databases included:\n                      <jats:italic>RS1<\/jats:italic>\n                      variant; age at presentation; best-corrected visual acuity (BCVA), central retinal thickness (CRT), macular volume (MV) at presentation and at the last follow up; full-field electroretinogram (ERG) findings; presence of peripheral retinoschisis and complications (vitreous hemorrhage, retinal detachment); treatment with systemic or topical carbonic anhydrase inhibitors (CAI).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Inter-eye symmetry revealed strong correlation in CRT (\n                      <jats:italic>r<\/jats:italic>\n                      = 0.77;\n                      <jats:italic>p<\/jats:italic>\n                      &amp;lt; 0.0001) and moderate correlations in MV (\n                      <jats:italic>r<\/jats:italic>\n                      = 0.51,\n                      <jats:italic>p<\/jats:italic>\n                      &amp;lt; 0.0001) and BCVA (\n                      <jats:italic>r<\/jats:italic>\n                      = 0.49;\n                      <jats:italic>p<\/jats:italic>\n                      &amp;lt; 0.0001). Weak or no correlations were observed between BCVA and structural parameters (CRT, MV). Peripheral retinoschisis was observed in 40 (68%), retinal detachment in 9 (15%), and vitreous hemorrhage in 5 (8%) patients, respectively. Longitudinal examinations (mean, 4.3 years) showed no BCVA changes; however, a reduction of the CRT (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.02), and MV (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.01) was observed. Oral and\/or topical CAI treatment did not significantly alter the CRT (\n                      <jats:italic>p<\/jats:italic>\n                      = 0.34).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>The XLRS phenotype demonstrates a strong CRT symmetry between the eyes within individual patients and stable BCVA over several years. BCVA exhibits a weak correlation with the morphological parameters of retinal thickness (CRT MV). In our cohort, longitudinal functional changes were not significant, likely attributed to the short average follow-up period. Furthermore, CAI treatment didn\u2019t influence both morphological and functional outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fmed.2023.1331889","type":"journal-article","created":{"date-parts":[[2024,1,11]],"date-time":"2024-01-11T00:23:55Z","timestamp":1704932635000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":9,"title":["Morphological and functional parameters in X-linked retinoschisis patients\u2013A multicentre retrospective cohort study"],"prefix":"10.3389","volume":"10","author":[{"given":"Peter","family":"Kiraly","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Immanuel P.","family":"Seitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maram E. 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