Topical Carbonic Anhydrase Inhibitors in the Long-Term Treatment of Juvenile X-Linked Retinoschisis

Schmitt, Melanie A.; Wang, Kevin; DeBenedictis, Meghan J; Traboulsi, Elias I.

doi:10.1097/iae.0000000000003588

Cited by 6 publications

(3 citation statements)

References 35 publications

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“…The only prospective study by Pennesi et al exhibited no morphological or functional improvement over an 18-month follow-up in XLRS patients undergoing CAI therapy ( 33 ). On the other hand, several retrospective studies have reported a reduction in ICC volume along with improvement in BCVA in a few ( 22 , 32 , 34 – 37 ). However, these studies employed varied treatment protocols and follow-up durations with no control group.…”

Section: Discussionmentioning

confidence: 98%

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

Kiraly,

Seitz,

Abdalla Elsayed

et al. 2024

Front. Med.

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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.

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Section: Discussionmentioning

confidence: 98%

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

Kiraly,

Seitz,

Abdalla Elsayed

et al. 2024

Front. Med.

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“…CAIs have been used to treat schisis or CME, which is achieved by modulating carbonic anhydrase IV receptors on the RPE membrane or by enhancing fluid transport [44,45]. However, the effectiveness of CAIs varies, and reports suggest that their impact is more visible in improving central foveal thickness and less so in improving visual acuity [40,46,47].…”

Section: Management and Prognosismentioning

confidence: 99%

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide

Yang,

Kang,

Lin

et al. 2023

Diagnostics

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Inherited retinal dystrophies (IRDs) are a group of heterogeneous diseases caused by genetic mutations that specifically affect the function of the rod, cone, or bipolar cells in the retina. Electroretinography (ERG) is a diagnostic tool that measures the electrical activity of the retina in response to light stimuli, and it can help to determine the function of these cells. A normal ERG response consists of two waves, the a-wave and the b-wave, which reflect the activity of the photoreceptor cells and the bipolar and Muller cells, respectively. Despite the growing availability of next-generation sequencing (NGS) technology, identifying the precise genetic mutation causing an IRD can be challenging and costly. However, certain types of IRDs present with unique ERG features that can help guide genetic testing. By combining these ERG findings with other clinical information, such as on family history and retinal imaging, physicians can effectively narrow down the list of candidate genes to be sequenced, thereby reducing the cost of genetic testing. This review article focuses on certain types of IRDs with unique ERG features. We will discuss the pathophysiology and clinical presentation of, and ERG findings on, these disorders, emphasizing the unique role ERG plays in their diagnosis and genetic testing.

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“…Several other gene-based trials for XLRS are ongoing (NCT05878860, NCT02317887, NCT05814952). In several small case series, both oral acetazolamide and topical dorzolamide have been found to reduce foveal schisis and improve vision (8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21). The purpose of this study is to investigate whether carbonic anhydrase inhibitors (CAIs) reduce the incidence of complications from XLRS, including macular atrophy, retinal tears, and retinal detachment (RD).…”

Section: Introductionmentioning

confidence: 99%

Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis

Wey,

Brill,

Miraldi Utz

et al. 2023

Front. Med.

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PurposeCarbonic anhydrase inhibitors (CAIs) reduce macular schisis in patients with X-linked retinoschisis (XLRS). The purpose of this study was to determine if CAIs reduce the incidence of complications from XLRS, including macular atrophy, retinal tears, and retinal detachment (RD), the most common causes of vision loss in patients with XLRS.MethodsFor this retrospective interventional case series, a chart review of patients examined at Cincinnati Children’s Hospital Medical Center [CCHMC] and Cincinnati Eye Institute [CEI] between 1/1/2015 and 1/16/2023 was performed. Male patients were included based on genetically-confirmed RS1 or typical clinical presentation with known family history of XLRS with at least two follow-up visits.ResultsTwenty-eight patients (56 eyes) with XLRS were included. There were 10 RS1 variants among the 21 genotyped patients. Median age at clinical diagnosis was 10.4 years old (range: 0.4–55.7 years) with median follow-up time of 4.7 years (range: 0.2–38.3 years). Median presenting Snellen visual acuity was 20/60 (logMAR 0.48, range: 0.18–3). In 26 eyes of 15 patients treated with CAIs, median CST pre-treatment was 416 microns (range: 198–701 microns), and median percentage decrease in CST on treatment was 21.8% (range: 0–74.5%) from highest pre-treatment CST. Reduction in CST with CAI use was statistically significant (p = 0.02), but not logMAR VA (p = 0.64). There was no significant difference in CST between patients treated with topical vs. oral CAI (p = 0.95) or between patients with partial or complete CAI adherence (p = 0.60). Ten eyes of seven patients had an RD requiring surgical intervention. No treated eyes developed new macular atrophy, peripheral retinoschisis, retinal tears, or RD; two eyes on topical CAIs had spontaneous resolution of bullous peripheral retinoschisis.ConclusionDuring the follow-up period, patients taking CAIs reduced macular schisis and did not experience new complications of macular atrophy, retinal tears, or RD. This is a relatively large cohort with long-term follow-up periods for patients with XLRS. Reduced macular schisis may not require perfect adherence with CAIs. A large, prospective, randomized, controlled clinical trial is needed to determine the potential of CAIs to improve visual function, reduce retinoschisis, and prevent RD.

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Topical Carbonic Anhydrase Inhibitors in the Long-Term Treatment of Juvenile X-Linked Retinoschisis

Cited by 6 publications

References 35 publications

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

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

The Value of Electroretinography in Identifying Candidate Genes for Inherited Retinal Dystrophies: A Diagnostic Guide

Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis

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