在患有酒精使用障碍的患者中,对视神经病变的遗传易感性
Camille Delibes1, Marc Ferré2,3, Marine Rozet4
1Département d'Ophtalmologie, Centre Hospitalier Universitaire (CHU), 49000, Angers, France.
Journal of translational medicine
|May 25, 2024
概括
在患有酒精使用障碍的患者中,遗传因素有助于视神经病变. 光学连贯断层扫描 (OCT) 检测无症状病例,建议对有视力丧失风险的人进行遗传查.
科学领域:
- 眼科医生 眼科 眼科
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
背景情况:
- 与酒精有关的视神经病变的确切原因尚不清楚,有关酒精毒性,吸烟和维生素缺乏的辩论.
- 调查遗传倾向对于理解慢性酒精使用障碍中的视神经病变至关重要.
- 双边,非临床的视神经病变可能发生在患有酒精使用障碍的患者中.
研究的目的:
- 研究与慢性酒精使用障碍相关的无症状视神经病变患者的遗传易感性.
- 在这个患者群体中确定导致视神经病变的遗传因素的患病率.
主要方法:
- 对102名视觉无症状的酒精使用障碍患者进行了回顾性队列研究.
- 光学连贯断层扫描 (OCT) 用于检测光神经病变.
- 在受影响患者中,通过面板测序 (87个核基因) 和线粒体DNA测序进行遗传测试.
主要成果:
- 在使用OCT的患者中,36% (37/102) 检测到视神经病变.
- 在6.7% (2/30) 的受影响患者中发现了SPG7基因的致病变体.
- 在16.7% (5/30) 的受影响患者中,在WFS1,LOXL1,MMP19,NR2F1和PMPCA基因中发现了具有不确定的意义的变异;没有发现致病性线粒体DNA变异.
结论:
- 在患有慢性酒精使用障碍的个体中,OCT有效地识别无症状视神经病变.
- 遗传易感性在近四分之一的酒精相关视神经病变患者中起作用.
- 需要进一步的研究,以探索对易患酒精诱导视力损伤的个体的预防策略.
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