Clinical Neurology Unit, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy.
Neurology Unit, Head-Neck and Neurosciences Department, Santa Maria della Misericordia University Hospital, 33100 Udine, Italy.
Genes (Basel). 2023 Dec 9;14(12):2192. doi: 10.3390/genes14122192.
Optic neuritis (ON) is an inflammatory condition affecting the optic nerve, leading to vision impairment and potential vision loss. This manuscript aims to provide a comprehensive review of the current understanding of ON, including its definition, epidemiology, physiology, genetics, molecular pathways, therapy, ongoing clinical studies, and future perspectives. ON is characterized by inflammation of the optic nerve, often resulting from an autoimmune response. Epidemiological studies have shown a higher incidence in females and an association with certain genetic factors. The physiology of ON involves an immune-mediated attack on the myelin sheath surrounding the optic nerve, leading to demyelination and subsequent impairment of nerve signal transmission. This inflammatory process involves various molecular pathways, including the activation of immune cells and the release of pro-inflammatory cytokines. Genetic factors play a significant role in the susceptibility to ON. Several genes involved in immune regulation and myelin maintenance have been implicated in the disease pathogenesis. Understanding the genetic basis can provide insights into disease mechanisms and potential therapeutic targets. Therapy for ON focuses on reducing inflammation and promoting nerve regeneration. Future perspectives involve personalized medicine approaches based on genetic profiling, regenerative therapies to repair damaged myelin, and the development of neuroprotective strategies. Advancements in understanding molecular pathways, genetics, and diagnostic tools offer new opportunities for targeted therapies and improved patient outcomes in the future.
视神经炎（ON）是一种影响视神经的炎症性疾病，可导致视力损害和潜在的视力丧失。本文旨在全面综述 ON 的现有认识，包括其定义、流行病学、生理学、遗传学、分子途径、治疗、正在进行的临床研究和未来展望。ON 的特征是视神经炎症，通常由自身免疫反应引起。流行病学研究表明，女性发病率较高，且与某些遗传因素有关。ON 的生理学涉及免疫介导的对视神经周围髓鞘的攻击，导致脱髓鞘和随后的神经信号传输受损。这个炎症过程涉及多种分子途径，包括免疫细胞的激活和促炎细胞因子的释放。遗传因素在 ON 的易感性中起着重要作用。一些涉及免疫调节和髓鞘维持的基因与疾病发病机制有关。了解遗传基础可以深入了解疾病机制和潜在的治疗靶点。ON 的治疗重点是减轻炎症和促进神经再生。未来的展望包括基于遗传谱的个体化医学方法、修复受损髓鞘的再生疗法以及神经保护策略的发展。对分子途径、遗传学和诊断工具的理解的进步为未来的靶向治疗和改善患者预后提供了新的机会。
