Abstract
PURPOSE: To report on the efficacy of the oral carbonic anhydrase inhibitor (CAI) acetazolamide in treating macular retinoschisis (RS) in the rare vitreoretinal dystrophy best known as the enhanced S-cone syndrome (ESCS). DESIGN: Interventional case report. METHODS: setting: University-based practice. patient: A 48-year old Jewish Italian male with clinically, functionally, and molecularly confirmed ESCS, attributable to homozygosity for the R311Q mutation in the NR2E3 gene, presented with sudden visual acuity (VA) loss (20/200) and metamorphopsia in the left eye resulting from acute, late-onset, asymmetric macular RS. intervention: Open-label, off-label treatment with the oral CAI acetazolamide. main outcome measure(s): Best-corrected VA, retinal thickness, and retinal microanatomy, assessed by Stratus optical coherence tomography (OCT) criteria. RESULTS: Following treatment, instituted one month after the acute-onset VA loss, retinal thickness and microanatomic profile normalized in the affected eye, with restoration of 20/20 corrected VA. The fellow eye, which had remained asymptomatic at 20/16 vision, had experienced mild paracentral macular RS evident by OCT criteria, which also resolved completely following oral CAI treatment. The outcome was maintained throughout the follow-up period at a low maintenance dose. CONCLUSIONS: Taken together with other recent reported benefits of topical and oral CAIs in the treatment of macular RS in X-linked retinoschisis, this interventional case report shows that CAIs can be used to treat effectively macular RS in general, and also specifically in ESCS.