诊断困境:莱伯遗传性视神经病变在一个70岁的老妇人身上
Alexandra Pietraszkiewicz1, Azraa Ayesha1, Kathleen B Digre1,2
1Department of Ophthalmology and Visual Sciences, John A Moran Eye Center, University of Utah Health, Salt Lake City, UT, USA.
American journal of ophthalmology case reports
|September 17, 2024
概括
非典型的勒伯遗传性视神经病变 (LHON) 发生在一名70岁的妇女身上,突出显示需要考虑LHON在患有视神经病变的老年患者中. 基因检测证实了诊断,导致视力改善与idebenone治疗.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 遗传学 是一个
- 神经学 神经学
背景情况:
- 勒伯遗传性视神经病 (LHON) 是一种线粒体疾病,通常影响年轻男性.
- 不典型的LHON呈现越来越多地被认可,扩大了典型的人口统计.
- 这一案例凸显了光神经病变的老年人诊断的挑战.
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