CASE REPORT article
Front. Pharmacol.
Sec. Neuropharmacology
Volume 16 - 2025 | doi: 10.3389/fphar.2025.1706488
Carbonic anhydrase inhibitor BrinzolamideBrinozamide dramatically improved the morphology and also function of a patient with RS1 mutation
Provisionally accepted- 1He Eye Specialist Hospital, Shenyang, China
- 2He University, Shenyang, China
- 3Liaoning Provincial Innovation Center of Ophthalmology, Shenyang, China
- 4Institute of Innovation Research for Precision Medical Treatment, He University, Shenyang, China
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X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, which encodes retinoschisin, a protein essential for maintaining the retinal structure during development. Here, we report the therapeutic evidence in a male patient diagnosed with X-linked retinoschisis (XLRS) before and after topical treatment with a carbonic anhydrase inhibitor (CAI), brinzolamide. XLRS-like typical retinal morphology and visual function before treatment and novel improvements gradually from one to three months following treatment were observed; then a recurrence of foveal retinoschisis and decreased retinal function occurred because the use of brinzolamide eye drops was disrupted by months-long recurrent upper respiratory tract infections; eventually retinal improvement after resuming brinzolamide were found again, confirming that brinzolamide eye drops could reduce retinoschisis and improve visual acuity. This individualized ‘dechallenge–rechallenge’ evidence chain provides direct supports for the brinzolamide to be the cause in controlling XLRS progression rather than the natural occurring in the course of the disease itself.
Keywords: RS1 gene, X-linked, Retinoschisis, carbonic anhydrase inhibitor, Foveal thickness
Received: 16 Sep 2025; Accepted: 16 Oct 2025.
Copyright: © 2025 Ren, Liu, Rong, Wang, Diao, Zhang, Tian, Shang, Song, Guan, Wang and Pang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jijing Pang, jjpangoph@hotmail.com
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