Layrolle Pierre, Orssaud Christophe, Leleu Maryse, Payoux Pierre, Chavanas Stéphane
Toulouse NeuroImaging Center (ToNIC), INSERM/Toulouse University UMR 1214, CHU Toulouse Purpan, 31024 Toulouse, France.
Assistance Publique-Hôpitaux de Paris (AP-HP), CRMR Ophtara, Paris-Cité University, 20 Rue Leblanc, 75015 Paris, France.
Biomedicines. 2024 Mar 6;12(3):584. doi: 10.3390/biomedicines12030584.
Optic neuropathies are characterized by the degeneration of the optic nerves and represent a considerable individual and societal burden. Notably, Leber's hereditary optic neuropathy (LHON) is a devastating vision disease caused by mitochondrial gene mutations that hinder oxidative phosphorylation and increase oxidative stress, leading to the loss of retinal ganglion neurons and axons. Loss of vision is rapid and severe, predominantly in young adults. Penetrance is incomplete, and the time of onset is unpredictable. Recent findings revealed that the incidence of genetic LHON susceptibility is around 1 in 1000, much higher than believed till now. Environmental factors are critical in LHON triggering or severity. Families at risk have a very strong demand for how to prevent the onset or limit the severity of the disease. Here, we review recent knowledge of the extrinsic determinants of LHON expression, including lifestyle, dietary supplements, common chemicals, and drugs.
视神经病变的特征是视神经变性，给个人和社会带来了相当大的负担。值得注意的是，Leber遗传性视神经病变（LHON）是一种由线粒体基因突变引起的毁灭性视力疾病，这些突变会阻碍氧化磷酸化并增加氧化应激，导致视网膜神经节神经元和轴突的丧失。视力丧失迅速且严重，主要发生在年轻人身上。其外显率不完全，发病时间也无法预测。最近的研究发现，遗传性LHON易感性的发生率约为千分之一，比目前认为的要高得多。环境因素在LHON的触发或严重程度方面至关重要。有风险的家庭对如何预防疾病发作或限制疾病严重程度有着非常强烈的需求。在此，我们综述了关于LHON表达的外在决定因素的最新知识，包括生活方式、膳食补充剂、常见化学物质和药物。
