Morphological and functional parameters in X-linked retinoschisis patients-A multicentre retrospective cohort study.

Autor:	Kiraly P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom., Seitz IP; Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany., Abdalla Elsayed MEA; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Downes SM; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom., Patel CK; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Charbel Issa P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom., Birtel J; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom.; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Department of Ophthalmology, University Hospital Bonn, Bonn, Germany., Mautone L; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Dulz S; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Atiskova Y; Department of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herrmann P; Department of Ophthalmology, University Hospital Bonn, Bonn, Germany., Vrabič N; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Jarc-Vidmar M; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Hawlina M; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Fischer MD; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.; Nuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United Kingdom.; Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.
Jazyk:	angličtina
Zdroj:	Frontiers in medicine [Front Med (Lausanne)] 2024 Jan 11; Vol. 10, pp. 1331889. Date of Electronic Publication: 2024 Jan 11 (Print Publication: 2023).
DOI:	10.3389/fmed.2023.1331889
Abstrakt:	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 inter-eye 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). Discussion: 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't influence both morphological and functional outcomes. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Kiraly, Seitz, Abdalla Elsayed, Downes, Patel, Charbel Issa, Birtel, Mautone, Dulz, Atiskova, Herrmann, Vrabič, Jarc-Vidmar, Hawlina and Fischer.)
Databáze:	MEDLINE
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