Zhang Lijuan, Reyes Roberto, Lee Winston, Chen Ching-Lung, Chan Lawrence, Sujirakul Tharikarn, Chang Stanley, Tsang Stephen H
Barbara and Donald Jonas Laboratory of Stem Cell and Regenerative Medicine, Department of Ophthalmology, Columbia University, New York, NY, USA.
Doc Ophthalmol. 2015 Aug;131(1):63-70. doi: 10.1007/s10633-015-9496-8. Epub 2015 Mar 22.
To report the results of an acetazolamide (Diamox(®)) treatment regimen in a genetically confirmed case of X-linked juvenile retinoschisis (XLRS).
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.
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.
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.
报告在一例经基因确诊的X连锁青少年视网膜劈裂症(XLRS)患者中使用乙酰唑胺(醋氮酰胺)治疗方案的结果。
一名XLRS患者被给予剂量为500毫克/天的乙酰唑胺(醋氮酰胺),随后因未遵从而停药4天,最终恢复治疗疗程。使用自发荧光、光谱域光学相干断层扫描(SD-OCT)、自适应光学扫描激光检眼镜(AOSLO)和全视野视网膜电图(ERG)监测最佳矫正视力、视网膜结构和功能。全视野ERG使用DTL记录电极并根据国际临床视觉电生理学会(ISCEV)标准进行Ganzfeld刺激。
SD-OCT对囊肿的连续监测显示,乙酰唑胺给药效果与视网膜劈裂大小之间存在密切关联。在开始使用乙酰唑胺后短短6天内,黄斑囊肿大小的减小就很显著。AOSLO数据显示,随着黄斑视网膜劈裂大小减小,锥体细胞图像的分辨率提高。
乙酰唑胺对XLRS患者的疗效在治疗一周内即可显现。AOSLO可能是评估XLRS早期乙酰唑胺治疗后锥体细胞的良好方法。