Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study
IntroductionX-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...
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Frontiers Media S.A.
2024-01-01
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2023.1331889/full |
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| author | Peter Kiraly Peter Kiraly Immanuel P. Seitz Maram E. A. Abdalla Elsayed Susan M. Downes Susan M. Downes Chetan K. Patel Peter Charbel Issa Peter Charbel Issa Johannes Birtel Johannes Birtel Johannes Birtel Johannes Birtel Luca Mautone Simon Dulz Yevgeniya Atiskova Philipp Herrmann Nika Vrabič Martina Jarc-Vidmar Marko Hawlina M. Dominik Fischer M. Dominik Fischer M. Dominik Fischer |
| author_facet | Peter Kiraly Peter Kiraly Immanuel P. Seitz Maram E. A. Abdalla Elsayed Susan M. Downes Susan M. Downes Chetan K. Patel Peter Charbel Issa Peter Charbel Issa Johannes Birtel Johannes Birtel Johannes Birtel Johannes Birtel Luca Mautone Simon Dulz Yevgeniya Atiskova Philipp Herrmann Nika Vrabič Martina Jarc-Vidmar Marko Hawlina M. Dominik Fischer M. Dominik Fischer M. Dominik Fischer |
| author_sort | Peter Kiraly |
| collection | DOAJ |
| description | IntroductionX-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.MethodsIn 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).ResultsInter-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).DiscussionThe 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. |
| first_indexed | 2024-03-08T09:33:14Z |
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| id | doaj.art-bcd5abab7e4b45ceaba43ed4c412765b |
| institution | Directory Open Access Journal |
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| language | English |
| last_indexed | 2024-03-08T09:33:14Z |
| publishDate | 2024-01-01 |
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| spelling | doaj.art-bcd5abab7e4b45ceaba43ed4c412765b2024-01-30T21:10:20ZengFrontiers Media S.A.Frontiers in Medicine2296-858X2024-01-011010.3389/fmed.2023.13318891331889Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort studyPeter Kiraly0Peter Kiraly1Immanuel P. Seitz2Maram E. A. Abdalla Elsayed3Susan M. Downes4Susan M. Downes5Chetan K. Patel6Peter Charbel Issa7Peter Charbel Issa8Johannes Birtel9Johannes Birtel10Johannes Birtel11Johannes Birtel12Luca Mautone13Simon Dulz14Yevgeniya Atiskova15Philipp Herrmann16Nika Vrabič17Martina Jarc-Vidmar18Marko Hawlina19M. Dominik Fischer20M. Dominik Fischer21M. Dominik Fischer22Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United KingdomNuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United KingdomCentre for Ophthalmology, University Hospital Tübingen, Tübingen, GermanyOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United KingdomOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United KingdomNuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United KingdomOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United KingdomOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United KingdomNuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United KingdomOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United KingdomNuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United KingdomDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyDepartment of Ophthalmology, University Hospital Bonn, Bonn, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyDepartment of Ophthalmology, University Medical Center Hamburg-Eppendorf, Hamburg, GermanyDepartment of Ophthalmology, University Hospital Bonn, Bonn, GermanyEye Hospital, University Medical Centre Ljubljana, Ljubljana, SloveniaEye Hospital, University Medical Centre Ljubljana, Ljubljana, SloveniaEye Hospital, University Medical Centre Ljubljana, Ljubljana, SloveniaOxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United KingdomNuffield Laboratory of Ophthalmology, University of Oxford, Oxford, United KingdomCentre for Ophthalmology, University Hospital Tübingen, Tübingen, GermanyIntroductionX-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.MethodsIn 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).ResultsInter-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).DiscussionThe 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.https://www.frontiersin.org/articles/10.3389/fmed.2023.1331889/fullX-linked retinoschisisXLRSmorphological parametersfunctional parameterssymmetry between eyescarbonic anhydrase inhibitors |
| spellingShingle | Peter Kiraly Peter Kiraly Immanuel P. Seitz Maram E. A. Abdalla Elsayed Susan M. Downes Susan M. Downes Chetan K. Patel Peter Charbel Issa Peter Charbel Issa Johannes Birtel Johannes Birtel Johannes Birtel Johannes Birtel Luca Mautone Simon Dulz Yevgeniya Atiskova Philipp Herrmann Nika Vrabič Martina Jarc-Vidmar Marko Hawlina M. Dominik Fischer M. Dominik Fischer M. Dominik Fischer Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study Frontiers in Medicine X-linked retinoschisis XLRS morphological parameters functional parameters symmetry between eyes carbonic anhydrase inhibitors |
| title | Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study |
| title_full | Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study |
| title_fullStr | Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study |
| title_full_unstemmed | Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study |
| title_short | Morphological and functional parameters in X-linked retinoschisis patients–A multicentre retrospective cohort study |
| title_sort | morphological and functional parameters in x linked retinoschisis patients a multicentre retrospective cohort study |
| topic | X-linked retinoschisis XLRS morphological parameters functional parameters symmetry between eyes carbonic anhydrase inhibitors |
| url | https://www.frontiersin.org/articles/10.3389/fmed.2023.1331889/full |
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