| Title: | Morphological and functional parameters in X-linked retinoschisis patients : a multicentre retrospective cohort study |
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| Authors: | ID Kiraly, Peter (Author)
ID Seitz, Immanuel P. (Author)
ID Abdalla Elsayed, Maram E. A. (Author)
ID Downes, Susan (Author)
ID Patel, Chetan B. (Author)
ID Birtel, Johannes (Author)
ID Mautone, Luca (Author)
ID Dulz, Simon (Author)
ID Vrabič, Nika (Author)
ID Jarc-Vidmar, Martina (Author)
ID Hawlina, Marko (Author), et al. |
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| Files: |  PDF - Presentation file, download (2,63 MB)
MD5: 9674B32BDAC12DD9036B8A686DB5B513
 URL - Source URL, visit https://www.frontiersin.org/articles/10.3389/fmed.2023.1331889/full
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | 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). |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2024 |
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| Number of pages: | str. [1-11] |
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| Numbering: | Vol. 10 |
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| PID: | 20.500.12556/DiRROS-29847  |
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| UDC: | 617.7 |
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| ISSN on article: | 2296-858X |
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| DOI: | 10.3389/fmed.2023.1331889 |
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| COBISS.SI-ID: | 181411843 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 17. 1. 2024;
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| Publication date in DiRROS: | 08.06.2026 |
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| Views: | 80 |
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| Downloads: | 52 |
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