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

Research output: Contribution to journalArticleResearchpeer-review

Abstract

PURPOSE: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAI) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAI 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 X-linked retinoschisis METHODS: In total, 42 patients were enrolled. To be included, patients had to have previous treatment with oral CAI (acetazolamide), topical CAI (brinzolamide/dorzolamide), or a combination of oral and 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 optical coherence tomography (OCT).

MAIN OUTCOME MEASURES: Central foveal thickness and best corrected visual acuity RESULTS: The median age at the baseline visit of the patients in this cohort study was 14.7 years (range 43.6 years) with a median follow-up period of 4.0 years (Q1: 2.2 years, Q3: 5.2 years). During the follow-up period, 25 patients were treated once with an oral CAI (60%), 24 once with a topical CAI (57%), and 11 patients 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 a day (P < 0.001, 95% CI -19.62 to -9.10 μm) and for topical CAI by 7.52 μm per drop a 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= 0.0083, 95% CI -0.010 to -0.0013 logMAR). Seven patients (17%) had side effects leading to treatment discontinuation.

CONCLUSION: 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 anatomical 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.

Original languageEnglish
JournalOphthalmology. Retina
DOIs
Publication statusE-pub ahead of print - 15 Dec 2023

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