Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

Jonathan Hensman; Leo C Hahn; Mary J van Schooneveld; Roselie M H Diederen; Jacoline B Ten Brink; Ralph J Florijn; Arthur A Bergen; Ine Strubbe; Pam Heutinck; Maria M van Genderen; L Ingeborgh van den Born; Alberta A Thiadens; Julie de Zaeytijd; Bart P Leroy; Carel B Hoyng; Camiel J F Boon

doi:10.1016/j.oret.2023.12.003

Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

Ophthalmol Retina. 2023 Dec 15:S2468-6530(23)00647-4. doi: 10.1016/j.oret.2023.12.003. Online ahead of print.

Authors

Jonathan Hensman¹, Leo C Hahn¹, Mary J van Schooneveld¹, Roselie M H Diederen¹, Jacoline B Ten Brink², Ralph J Florijn², Arthur A Bergen², Ine Strubbe³, Pam Heutinck⁴, Maria M van Genderen⁵, L Ingeborgh van den Born⁶, Alberta A Thiadens⁴, Julie de Zaeytijd³, Bart P Leroy³, Carel B Hoyng⁷, Camiel J F Boon⁸

Affiliations

¹ Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
² Department of Human Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.
³ Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
⁴ Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.
⁵ Bartiméus, Diagnostic Centre for Complex Visual Disorders, Zeist, The Netherlands.
⁶ The Rotterdam Eye Hospital and the Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands.
⁷ Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
⁸ Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: camiel.boon@amsterdamumc.nl.

PMID: 38104928
DOI: 10.1016/j.oret.2023.12.003

Abstract

Purpose: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAIs) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAIs on visual acuity and cystoid fluid collections (CFC) in XRLS patients in Dutch and Belgian tertiary referral centers.

Design: Retrospective cohort study.

Participants: Forty-two patients with XLRS.

Methods: In total, 42 patients were enrolled. To be included, patients had to have previous treatment with an oral CAI (acetazolamide), a topical CAI (brinzolamide/dorzolamide), or a combination of an oral and a topical CAI for at least 4 consecutive weeks. We evaluated the effect of the CAI on best-corrected visual acuity (BCVA) and central foveal thickness (CFT) on OCT.

Main outcome measures: Central foveal thickness and BCVA.

Results: The median age at the baseline visit of the patients in this cohort study was 14.7 (range, 43.6) years, with a median (interquartile range [IQR]) follow-up period of 4.0 (2.2-5.2) years. During the follow-up period, 25 patients were treated once with an oral CAI (60%), 24 patients were treated once with a topical CAI (57%), and 11 patients were treated once with a combination of both topical and oral CAI (26%). We observed a significant reduction of CFT for oral CAI by 14.37 μm per 100 mg per day (P < 0.001; 95% confidence interval [CI], -19.62 to -9.10 μm) and for topical CAI by 7.52 μm per drop per day (P = 0.017; 95% CI, -13.67 to -1.32 μm). The visual acuity changed significantly while on treatment with oral CAI by -0.0059 logMAR per 100 mg (P = 0.008; 95% CI, -0.010 to -0.0013 logMAR). Seven patients (17%) had side effects leading to treatment discontinuation.

Conclusions: Our data indicate that treatment with (oral) CAI may be beneficial for short-term management of CFC in patients with XLRS. Despite a significant reduction in CFT, the change in visual acuity was modest and not of clinical significance. Nonetheless, the anatomic improvement of the central retina in these patients may be of value to create an optimal retinal condition for future potential treatment options such as gene therapy.

Financial disclosure(s): The authors have no proprietary or commercial interest in any materials discussed in this article.

Keywords: Carbonic anhydrase inihibtor; Cystoid macular edema; X-linked retinoschisis; foveal zone thickness; visual acuity.