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

被引：3

作者：

Kiraly, Peter ^{[1
,2
]}

Seitz, Immanuel P. ^{[3
]}

Abdalla Elsayed, Maram E. A. ^{[1
]}

Downes, Susan M. ^{[1
,2
]}

Patel, Chetan K. ^{[1
]}

Charbel Issa, Peter ^{[1
,2
]}

Birtel, Johannes ^{[1
,2
,4
,5
]}

Mautone, Luca ^{[4
]}

Dulz, Simon ^{[4
]}

Atiskova, Yevgeniya ^{[4
]}

Herrmann, Philipp ^{[5
]}

Vrabic, Nika ^{[6
]}

Jarc-Vidmar, Martina ^{[6
]}

Hawlina, Marko ^{[6
]}

Fischer, M. Dominik ^{[1
,2
,3
]}

机构：

[1] Oxford Univ Hosp NHS Fdn Trust, Oxford Eye Hosp, Oxford, England

[2] Univ Oxford, Nuffield Lab Ophthalmol, Oxford, England

[3] Univ Hosp Tubingen, Ctr Ophthalmol, Tubingen, Germany

[4] Univ Med Ctr Hamburg Eppendorf, Dept Ophthalmol, Hamburg, Germany

[5] Univ Hosp Bonn, Dept Ophthalmol, Bonn, Germany

[6] Univ Med Ctr Ljubljana, Eye Hosp, Ljubljana, Slovenia

来源：

FRONTIERS IN MEDICINE | 2024年 / 10卷

关键词：

X-linked retinoschisis; XLRS; morphological parameters; functional parameters; symmetry between eyes; carbonic anhydrase inhibitors; gene therapy; trial endpoints; OPTICAL COHERENCE TOMOGRAPHY; CYSTIC MACULAR LESIONS; GENE-THERAPY; INTRAVITREAL DELIVERY; VISUAL-ACUITY; OUTCOMES; DORZOLAMIDE; DYSTROPHIES; THICKNESS; SYMMETRY;

D O I：

10.3389/fmed.2023.1331889

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：11

共 50 条

[1] Carbonic anhydrase inhibition in X-linked retinoschisis: An eye on the photoreceptors [J].