患有同时存在勒伯遗传光神经病变和多发性硬化症 (哈丁综合征) 的患者的DNAJC30突变:一个病例报告
Sara KamaliZonouzi1, Jonathan Micieli2,3,4
1School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Case reports in ophthalmology
|April 4, 2025
概括
勒伯遗传性视神经病变 (LHON) 可以模仿多发性硬化症 (MS). 一种罕见的DNAJC30基因突变在患有脱髓化综合征的患者中引起了LHON,这突显了复杂的视神经病变病例中需要进行遗传测试的必要性.
科学领域:
- 神经眼科 神经眼科
- 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) 患者患多发性硬化症 (MS) 的风险增加.
- 哈丁综合征,即LHON和MS的共存,使诊断复杂化,特别是罕见的LHON基因突变,如DNAJC30.
- 在脱髓化综合征中区分视神经病变是临床上具有挑战性的.
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