20.500.12556/DiRROS-29847 Morphological and functional parameters in X-linked retinoschisis patients a multicentre retrospective cohort study Introduction: 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 intereye symmetry, relationship between structural and functional parameters, and disease progression is vital. Methods: In this retrospective multicentre study, 118 eyes of 59 XLRS patients with RS1 mutations were assessed. Information from center databases included: RS1 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). Results: Inter-eye symmetry revealed strong correlation in CRT (r = 0.77; p < 0.0001) and moderate correlations in MV (r = 0.51, p < 0.0001) and BCVA (r = 0.49; p < 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 (p = 0.02), and MV (p = 0.01) was observed. Oral and/or topical CAI treatment did not significantly alter the CRT (p = 0.34). mrežnica očesne bolezni klinične študije true false true Angleški jezik Slovenski jezik Neznano 2026-06-08 12:57:53 2026-06-08 12:57:54 2026-06-09 03:49:22 0000-00-00 00:00:00 2024 0 0 Nasl. z nasl. zaslona; Opis vira z dne 17. 1. 2024; str. [1-11] Vol. 10 1. 1. 2024 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 617.7 2296-858X 10.3389/fmed.2023.1331889 181411843 RAZ_Kiraly_Peter_2024.pdf RAZ_Kiraly_Peter_2024.pdf 1 9674B32BDAC12DD9036B8A686DB5B513 26137f2e0c1e88262d58032f28a001e5fa32412efa2f5982af321c89326daed8 07cd6a7c-6329-11f1-9215-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44899 https://www.frontiersin.org/articles/10.3389/fmed.2023.1331889/full 1 e83a3528-6328-11f1-9215-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=44898 Univerzitetni klinični center Ljubljana 0 0 0