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.
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.
Authors: Jacque L Duncan; Kavitha Ratnam; David G Birch; Sanna M Sundquist; Anna S Lucero; Yuhua Zhang; Meira Meltzer; Nizar Smaoui; Austin Roorda Journal: Invest Ophthalmol Vis Sci Date: 2011-12-20 Impact factor: 4.799
Authors: N Z Gregori; A M Berrocal; G Gregori; T G Murray; R W Knighton; H W Flynn; S Dubovy; C A Puliafito; P J Rosenfeld Journal: Br J Ophthalmol Date: 2008-11-19 Impact factor: 4.638
Authors: Brittni A Scruggs; Constance V Chen; Wanda Pfeifer; Jill S Wiley; Kai Wang; Arlene V Drack Journal: Ophthalmic Genet Date: 2019-09-09 Impact factor: 1.803
Authors: Mark E Pennesi; David G Birch; K Thiran Jayasundera; Maria Parker; Ou Tan; Rabia Gurses-Ozden; Carrie Reichley; Kathleen N Beasley; Paul Yang; Richard G Weleber; Lea D Bennett; John R Heckenlively; Kalyani Kothapalli; Jeffrey D Chulay Journal: Invest Ophthalmol Vis Sci Date: 2018-12-03 Impact factor: 4.799