Lijuan ZhangRoberto ReyesWinston LeeChing Lung ChenLawrence ChanTharikarn SujirakulStanley ChangStephen H. TsangColumbia University in the City of New YorkShanxi Eye HospitalUniversity of ArizonaMahidol UniversityEdward S. Harkness Eye Institute2018-11-232018-11-232015-08-24Documenta Ophthalmologica. Vol.131, No.1 (2015), 63-7015732622001244862-s2.0-84937974134https://repository.li.mahidol.ac.th/handle/20.500.14594/36345© 2015, Springer-Verlag Berlin Heidelberg. Purpose: To report the results of an acetazolamide (Diamox®) treatment regimen in a genetically confirmed case of X-linked juvenile retinoschisis (XLRS). Methods: A patient with XLRS was prescribed acetazolamide (Diamox®) at a dose of 500 mg/day, then discontinued the treatment due to non-compliance for 4 days, and finally resumed the course of treatment. Best-corrected visual acuity, retinal structure, and function were monitored with autofluorescence, spectral domain-optical coherence tomography (SD-OCT), adaptive optics scanning laser ophthalmoscopy (AOSLO), and full-field electroretinogram (ERG). Full-field ERG was performed using DTL recording electrodes and Ganzfeld stimulation according to ISCEV standards. Results: Serial monitoring of the cysts by SD-OCT revealed a strong association between the effects of acetazolamide administration and the size of the schisis. A reduction in foveal cyst size was significant in as rapid as 6 days after acetazolamide initiation. AOSLO data revealed that the resolution of cone cell images improves as the foveal schisis decreases in size. Conclusions: Efficacy of acetazolamide in patients with XLRS can be apparent in as rapid as a week of therapy. AOSLO can be a good method to evaluate the cone cells after acetazolamide treatment in the early stages of XLRS.Mahidol UniversityMedicineArticleSCOPUS10.1007/s10633-015-9496-8