自体主导光学缩的病例,视觉功能相对良好
Midori Tachibana1, Takaaki Hayashi2, Yuro Igawa1
1Department of Ophthalmology, Faculty of Medicine, Saitama Medical University, 38 Moro-Hongo Moroyama-machi, Iruma-gun, Saitama, 350-0495, Japan.
BMC ophthalmology
|August 2, 2025
概括
主导视力缩 (DOA) 可以呈现轻度视力丧失和正常视野,使诊断具有挑战性. 基因检测对于诊断DOA至关重要,特别是当视神经稀薄存在尽管良好的视觉敏度.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 神经科学是一个神经科学.
背景情况:
- 主导性视力缩 (DOA) 是一种与OPA1基因突变有关的遗传性视力神经病变.
- DOA通常会导致逐渐的视力丧失,通常在生命早期被诊断出来.
- 由于呈现的变化和可能出现轻度损伤而没有视野异常,因此诊断可能很困难.
研究的目的:
- 在患有自体主导DOA的患者中报告纵向发现.
- 为了突出诊断在维护视觉功能的病例中的挑战.
- 强调基因测试在DOA诊断中的作用.
主要方法:
- 一个56岁的男性的纵向案例研究,怀疑DOA.
- 眼科检查包括视力敏度,眼内压力,裂纹灯,眼底镜和视野测试 (汉弗雷视野分析仪).
- 光学连贯断层扫描 (OCT) 用于视网膜神经纤维层评估和对OPA1基因变异进行基因测试 (下一代测序).
主要成果:
- 49岁时的初始表现,视力模糊,BCVA 1.0和正常的视野.
- 5年后,BCVA下降至0.8 (OD) 和0.6 (OS),临界融合频率降低和国外和海外地区确认的RNFL稀释.
- 基因测试发现了一种新型异质合体OPA1基因变异 (c.2331+2T>G).
- 在55岁时,BCVA在0.8 (OD) 和0.6 (OS) 时仍然相对良好.
结论:
- 在一些DOA患者中,良好的视觉功能可以保持到中年.
- 当观察到环囊RNFL稀释时,应考虑对OPA1突变进行基因测试.
- 早期和准确的DOA诊断对于管理和遗传咨询至关重要.
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