Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.
Treatment of adult-onset acute macular retinoschisis in enhanced s-cone syndrome with oral acetazolamide.
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DOI：
10.1016/j.ajo.2008.08.003
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发表时间：
2009-02
影响因子：
4.2
通讯作者：
Stone, Edwin M.
中科院分区：
文献类型：
--
作者：
Iannaccone, Alessandro;Fung, Kenneth H.;Eyestone, Mari E.;Stone, Edwin M.
报告口服碳酸酐酶抑制剂（CAI）乙酰唑胺治疗罕见的玻璃体视网膜营养不良（S-视锥细胞增强综合征（ESCS））的黄斑视网膜劈裂（RS）的疗效。介入性病例报告。设置：以大学为基础的实践。病人：一名48岁的意大利犹太男性，由于NR 2 E3基因中R311 Q突变的纯合性，患有临床、功能和分子学证实的ESCS，表现为急性、迟发性、不对称黄斑RS引起的左眼视力突然丧失（20/200）和视物变形。干预：口服CAI乙酰唑胺的开放标签、标签外治疗。主要结局指标：最佳矫正视力、视网膜厚度和视网膜显微解剖结构，通过Stratus光学相干断层扫描（OCT）标准进行评估。治疗后，在急性发作视力丧失后一个月开始，受影响眼睛的视网膜厚度和显微解剖轮廓正常化，矫正视力恢复20/20。对侧眼在20/16视力时保持无症状，根据OCT标准，出现了明显的轻度中央旁黄斑RS，口服CAI治疗后也完全消退。在整个随访期间，以低维持剂量维持结局。结合最近报道的其他局部和口服CAIs治疗X连锁视网膜劈裂症黄斑RS的获益，该干预性病例报告显示，CAIs可用于有效治疗黄斑RS，尤其是ESCS。
To report on the efficacy of the oral carbonic anhydrase inhibitor (CAI), acetazolamide, in treating macular retinoschisis (RS) in the rare vitreoretinal dystrophy best known as the enhanced S-cone syndrome (ESCS). Interventional case report. Setting: University-based practice. Patient: A 48-year old Jewish Italian male with clinically, functionally and molecularly confirmed ESCS, due to homozygosity for the R311Q mutation in the NR2E3 gene, presented with sudden visual acuity loss (20/200) and metamorphopsia in the left eye resulting from acute, late-onset, asymmetric macular RS. Intervention: Open-label, off-label treatment with the oral CAI acetazolamide. Main Outcome Measure(s): Best corrected visual acuity, retinal thickness and retinal microanatomy, assessed by Stratus optical coherence tomography (OCT) criteria. Following treatment, instituted one month after the acute-onset visual acuity loss, retinal thickness and microanatomic profile normalized in the affected eye, with restoration of 20/20 corrected visual acuity. The fellow eye, which had remained asymptomatic at 20/16 vision, had experienced mild paracentral macular RS evident by OCT criteria, which also resolved completely following oral CAI treatment. The outcome was maintained throughout the follow up period at a low maintenance dose. Taken together with other recent reported benefits of topical and oral CAIs in the treatment of macular RS in X-linked retinoschisis, this interventional case report shows that CAIs can be used to treat effectively macular RS in general, and also specifically in ESCS.
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影响因子：
1.8
作者：
HOOD, DC;CIDECIYAN, AV;JACOBSON, SG
通讯作者：
JACOBSON, SG
影响因子：
--
作者：
Sharon, D;Sandberg, MA;Dryja, TP
通讯作者：
Dryja, TP
影响因子：
4.4
作者：
Audo, Isabelle;Michaelides, Michel;Holder, Graham E.
通讯作者：
Holder, Graham E.
DOI：
10.1097/00006982-199705000-00009
发表时间：
1997-01-01
影响因子：
3.3
作者：
Grover, S;Fishman, GA;Adelman, AE
通讯作者：
Adelman, AE
影响因子：
1.8
作者：
Iannaccone, Alessandro;Man, David;Klein-Seetharaman, Judith
通讯作者：
Klein-Seetharaman, Judith