一个与OPA3相关的单边主导光学缩病例报告
Matthaeus Antony Ware1, Haoran Charles Li2, Jonathan Micieli1,2,3,4
1Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Case reports in ophthalmology
|January 22, 2026
概括
这项研究报告了由OPA3基因突变引起的单边自体主导视力缩 (DOA) 的第一个病例. 这一发现挑战了与OPA3相关的DOA总是双边的概念,扩大了这种遗传性视神经病变的已知谱.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 神经科学是一个神经科学.
背景情况:
- 自体主导视力缩 (DOA) 是一种遗传的视力神经病变,通常导致双边视力丧失.
- 大多数DOA病例与OPA1突变有关;OPA3突变很少见,通常影响双眼.
- 单边 DOA 之前没有报告过.
研究的目的:
- 报告第一个与OPA3突变相关的单边DOA病例.
- 挑战与OPA3相关的DOA呈现的既定理解.
- 扩大与OPA3相关的视神经病变的临床谱.
主要方法:
- 一个33岁的男性的临床表现,单方面视力丧失.
- 眼科检查,包括视敏度,瞳孔反应和光盘评估.
- 光学连贯性断层扫描 (OCT) 和视野 (VF) 测试.
- 磁共振成像 (MRI) 排除其他原因.
- 对OPA3突变进行基因检测.
主要成果:
- 发现了一种新型异构的OPA3误解变体 (c.199G>C,p.Val67Leu).
- 患者在四年内左眼呈现逐渐,单边的视力丧失.
- 右眼没有受到影响,视力敏度和视神经的外观正常.
- 在受影响的左眼中,OCT证实了视网膜神经纤维层的稀薄.
结论:
- 这起案件是首次记录有单方面OPA3相关的DOA的案例.
- 这些发现扩大了与OPA3相关的视神经病变的临床表现.
- 这种非典型的表现需要考虑单侧视神经病变患者的OPA3突变.
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