A 74-year-old woman with a history of rheumatoid arthritis using hydroxychloroquine presented with gradually progressive decreased vision in both eyes and was found to have a bilateral maculopathy. Initial genetic testing was negative, and after discussing the low likelihood of her severe findings being secondary to her relatively low hydroxychloroquine exposure, the possibility of an autoimmune retinopathy was entertained. Updated data on the genetic testing reclassified one of her mutations in HGSNAT as pathogenic. This case highlights the value of genetic testing and the need to keep a high index of suspicion even after initial negative results, given the fact that our knowledge of mutations leading to retinal degeneration is constantly evolving.
Case Rep Ophthalmol 2021;12:622–628

中文翻译：

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一例双侧黄斑病变的意外病因

一名 74 岁女性患有类风湿性关节炎，使用羟氯喹治疗后双眼视力逐渐下降，并发现双侧黄斑病变。最初的基因检测是阴性的，在讨论了她的严重发现继发于她相对较低的羟氯喹暴露的可能性很小之后，自身免疫性视网膜病变的可能性被接受了。基因检测的最新数据将她在 HGSNAT 中的一个突变重新归类为致病性突变。鉴于我们对导致视网膜变性的突变的了解不断发展，这个案例凸显了基因检测的价值，以及即使在最初的阴性结果之后也要保持高度怀疑的必要性。
Case Rep Ophthalmol 2021；12:622–628