Treatment of cystic cavities in X-linked juvenile retinoschisis: The first sequential cross-over treatment regimen with dorzolamide

Abstract

Purpose: To report the first sequential cross-over treatment with the longest ophthalmic follow-up in a case of X-linked juvenile retinoschisis (XLRS) successfully treated with topical dorzolamide.

Observations: A healthy 34 year-old man presented with one month history of decreased visual acuity in his left eye. Funduscopy was significant for a blunted and cystoid-like foveal reflex in both eyes. The macular OCT showed cystic foveal changes OU. The patient was diagnosed with XLRS and was observed. On two subsequent follow-ups, a significant decrease in the patient's visual acuity warranted the use of topical dorzolamide for treating the cystic foveal changes, which completely resolved two months post-treatment initiation.

Conclusion and importance: Previous reports showed the benefit of dorzolamide in treating foveal cystic cavities in XLRS. To our knowledge, this is the first case of XLRS demonstrating the benefits of topical dorzolamide based on a sequential cross-over treatment regimen. It may also represent a case with the longest ophthalmic follow-up providing, in consequence, long-term understanding of the natural history and complications of this rare disease After ruling out major causes of cystoid macular edema, XLRS patients presenting with worsening of their visual acuities due to larger cystic macular changes may benefit from an alternating ON/OFF regimen of topical dorzolamide, which offers a significant treatment advantage outweighing its well-known side effects. Our study consolidates the importance of "medication vacation" by showing its efficacy in providing anatomical and visual functional improvements in patients with chronic cystic macular changes.

Keywords: Macular cystic cavities; Natural history; Topical carbonic anhydrase inhibitors; Treatment; X-linked juvenile retinoschisis.

Fig. 1

Macular optical coherence tomography (OCT) of our 34-year-old patient with X-linked juvenile retinoschisis. A. OD foveal OCT at presentation showing diffuse retinal thickening due to cystoid-like foveal cavities. The amblyopic OD visual acuity was CF. B. OS foveal OCT presentation showing diffuse retinal thickening due to cystoid-like foveal cavities. The OS visual acuity was 20/100. C. OD foveal OCT at the 9th year of follow-up showing diffuse retinal thickening due to cystoid-like foveal cavities. The OD visual acuity was CF and the central foveal thickness (CFT) was 347 μm. D. OS foveal OCT at the 9th year of follow-up showing diffuse retinal thickening due to cystoid-like foveal cavities. The OS visual acuity worsened to 20/400 and the CFT was 463 μm. E. OS foveal OCT 2 months after starting topical dorzolamide TID (during the 9th year of follow-up) showing complete resolution of the cystic foveal thickening. The OS visual acuity improved to 20/70 and the CFT decreased by 50%–248 μm. F. OD foveal OCT at the 10th year of follow-up showing inner and outer retinal cystoid-like foveal cavities. The OD visual acuity was still at CF and the CFT was 323 μm. G. OS foveal OCT at the 10th year of follow-up showing recurrence of the cystic foveal thickening 6 months after stopping topical dorzolamide. The OS visual acuity dropped to 20/100 and the CFT increased to 288 μm. H. OS foveal OCT 1 month after starting topical dorzolamide TID (during the 10th year of follow-up) showing significant reduction of the cystic foveal thickening. The OS visual acuity improved to 20/60 and the CFT decreased by 35%–188 μm.