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一个23岁的男性的氧化视网膜病变

Elodie Bousquet^1,2, Ahmad Santina¹, Swathi Somisetty¹

¹Retinal Disorders and Ophthalmic Genetics Division, Stein Eye Institute, University of California Los Angeles, David Geffen School of Medicine at UCLA, Los Angeles, California, United States.

Retinal cases & brief reports

|December 17, 2024

概括

本病例报告详细介绍了一名年轻男性患者在经过13年的治疗后发生的氧化 (HCQ) 视网膜病变. 通过多式成像早期检测对于管理HCQ毒性至关重要.

科学领域:

眼科医生眼科眼科
类风湿病学类风湿病学
药理学药理学是指药理学的学科.

背景情况:

氧化 (HCQ) 广泛用于治疗自身免疫性疾病,如狼.
长期使用HCQ可能导致视网膜毒性,称为HCQ视网膜病变.
缺少用于HCQ的儿科患者的查指南.

研究的目的:

为了记录一个年轻的成年男性在长期接受HCQ治疗后出现HCQ视网膜病变的病例.
突出多式成像在诊断HCQ视网膜病变中的重要性.

主要方法:

一名23岁的男性患者患有幼年系统性红斑狼,在HCQ治疗13年,接受了全面的眼科检查.
多式成像包括底部摄影,底部自光 (FAF),光谱域光学连贯断层扫描 (SD-OCT) 和面对面的OCT.
功能测试包括全场电网膜学 (ERG) 和汉弗雷视野 (HVF) 测试.

主要成果:

SD-OCT和面对面的OCT显示了对中心圆形区域的损失和外核层的稀薄,在左眼中更为明显.
汉弗瑞视野测试表明可能存在鼻腔视野损失.
基因测试发现了CNGA1和CRX基因的异构基因突变,尽管ERG不显著.

结论:

在年轻患者中,HCQ视网膜病变可能发生,即使治疗始于童年.
这一案例强调了进一步研究HCQ对儿科患者的影响的必要性.
遗传载体地位对HCQ毒性敏感性的作用需要进一步研究.

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