Collison Frederick T, Fishman Gerald A
The Pangere Center for Inherited Retinal Diseases, The Chicago Lighthouse, Chicago, Illinois.
Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago College of Medicine, Chicago, Illinois.
Retin Cases Brief Rep. 2018;12(4):318-321. doi: 10.1097/ICB.0000000000000495.
Carbonic anhydrase inhibitors (CAIs) have been shown to have a beneficial effect on cystoid macular edema in X-linked retinoschisis (XLRS) and other inherited retinal conditions. The effect of CAIs outside the macula has been less well studied.
Snellen visual acuity, spectral-domain optical coherence tomography (SD-OCT), kinetic visual field, and dark-adapted single-flash full-field electroretinogram (ERG) testing were all done at baseline and at least one follow-up visit. A 55-year-old male diagnosed with XLRS exhibited extensive macular and extramacular cystoid splitting in the right eye and was treated with oral extended-release acetazolamide 500 mg/day.
By 6 months of follow-up on acetazolamide treatment, SD-OCT demonstrated resolution of cystoid spaces both within the macula and out to the midperiphery. Visual acuity improved from 20/70 to 20/30. The full-field ERG was distinctly electronegative at both baseline and at a follow-up visit, with oscillatory potentials becoming more apparent at the follow-up visit. Peripheral visual field boundaries did not change significantly.
This report demonstrates structural resolution of cystoid spaces throughout much of the retina in a patient with XLRS, adding to a published case report in which we first noted that extramacular cystoid spaces observed in XLRS may respond to CAI treatment. To our knowledge, this is the first reported study of follow-up functional studies (ERG and perimetry) in a CAI treatment responder with XLRS.
碳酸酐酶抑制剂（CAIs）已被证明对X连锁视网膜劈裂症（XLRS）和其他遗传性视网膜疾病中的黄斑囊样水肿具有有益作用。CAIs对黄斑以外区域的影响研究较少。
在基线和至少一次随访时进行了Snellen视力、光谱域光学相干断层扫描（SD-OCT）、动态视野检查和暗适应单闪光全视野视网膜电图（ERG）测试。一名55岁被诊断为XLRS的男性右眼出现广泛的黄斑和黄斑外囊样劈裂，接受口服缓释乙酰唑胺500毫克/天的治疗。
乙酰唑胺治疗6个月的随访结果显示，SD-OCT显示黄斑内和中周边区域的囊样间隙均消失。视力从20/70提高到20/30。全视野ERG在基线和随访时均明显呈电阴性，随访时振荡电位更明显。周边视野边界无明显变化。
本报告证明了一名XLRS患者视网膜大部分区域的囊样间隙在结构上得到了消退，补充了一篇已发表的病例报告，在该报告中我们首次指出XLRS中观察到的黄斑外囊样间隙可能对CAI治疗有反应。据我们所知，这是首次报道的对一名接受CAI治疗有反应的XLRS患者进行随访功能研究（ERG和视野检查）的研究。
