视网膜是中枢神经系统的一部分。在胚胎起源上,视网膜和大脑均由神经管发育而来。因此,许多发生在大脑的神经退行性疾病往往会同时累及视网膜。而神经退行性疾病过程中相关的特征性病理改变,如病理性蛋白聚集和神经血管单元破坏也常能在视网膜组织中被检测到。在一些神经退行性疾病中,眼部的病理改变甚至在临床症状出现之前就已发生;其次视网膜易于观察且局部治疗操作便捷,因此近年来视网膜在中枢神经退行性疾病发病机制研究、早期诊断和新型治疗方式探究等方面备受关注。该文对常见神经退行性疾病的眼部病理改变进行综述,旨在为大脑和视网膜神经退行疾病的发病机制、诊断以及治疗研究提供新的见解。
The retina is a part of the central nervous system. Developmentally, both retina and brain are derived from the neural tube. Therefore, many neurodegenerative diseases that occur in the brain tend to involve both the retina. In the process of neurodegenerative diseases, related characteristic pathological changes, such as pathological protein aggregation, neurovascular unit impairment can often be detected in retinal tissue. In some neurodegenerative diseases, pathological changes in the eye occur even before clinical symptoms appear. In addition, the retina are easy to observe and local treatments are convenient. In recent years, the manifestations of the retina have attracted much attention in the study of pathogenesis, early diagnosis, and new treatments of systemic central neurodegenerative diseases. In this way, this article reviews the ocular pathological changes of common neurodegenerative diseases, aiming to provide new insights into the pathogenesis, diagnosis, and treatment of brain and retinal neurodegenerative diseases.
神经退行性疾病会损害大脑和神经系统的结构和功能,导致认知和行为能力逐渐下降,因此,早期诊断神经系统疾病可以促进预防、监测和治疗,从而改善患者的预后。眼与脑在结构和胚胎学上的相似之处为评估中枢神经系统的神经和微血管变化提供了潜在可能。眼组学是眼科学、遗传学和生物信息学的交叉学科,目标是开发快速、无创、具有成本效益的生物标志物,用于全身性疾病的筛查、诊断和风险分层。随着诊断和眼科成像技术的进步,用于检测眼的结构、功能和视觉变化的各项技术得到了快速发展。眼部生物标志物成为评估神经退行性疾病进展有前景的工具。文章采用眼部影像学(例如 OCT、OCTA)和电生理学(例如 VEP、ERG)等筛查方法检测眼部异常神经退行性疾病,总结了眼组学在神经退行性疾病的应用,包括阿尔茨海默病、帕金森病、额颞叶痴呆、肌萎缩侧索硬化症和亨廷顿病,旨在为神经退行性疾病的诊断和治疗提供新的思路。尽管并非所有生物标志物都是疾病特异性的,但未来大数据、人工智能和眼组学的融合,有可能进一步深入了解这些神经退行性疾病。
Neurodegenerative diseases can damage the structure and function of the brain and nervous system, leading to a gradual decline in cognitive and behavioral abilities. Therefore, early diagnosis of neurological diseases can promote prevention, monitoring, and treatment, thereby improving the prognosis of patients. The structural and embryological similarities between the eyes and the brain provide potential for evaluating neurological and microvascular changes in the central nervous system. oculomics is an interdisciplinary field that combines ophthalmology, genetics, and bioinformatics, with the goal of developing rapid, non-invasive, and cost-effective biomarkers for screening, diagnosis, and risk stratification of systemic diseases. With the advancement of diagnostic and ophthalmic imaging technologies, various techniques for detecting the structure, function, and visual changes of the eye have been rapidly developed. Eye biomarkers have become promising tools for assessing the progression of neurodegenerative diseases. The article uses screening methods such as eye imaging (such as OCT, OCTA) and electrophysiology (such as VEP, ERG) to detect abnormal neurodegenerative diseases in the eyes. It summarizes the application of oculomics in neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, frontotemporal dementia, amyotrophic lateral sclerosis, and Huntington's disease, aiming to provide new ideas for the diagnosis and treatment of neurodegenerative diseases. Although not all biomarkers are disease-specific, the integration of big data, artificial intelligence, and oculomics in the future may further deepen our understanding of these neurodegenerative diseases.
视网膜微循环与脑小血管具有相似的特征。视网膜被认为是可检测到的“窗口”,以检测在神经退行性疾病中发生的微血管损伤。光学相干断层扫描血管造影(optical coherence tomography angiography,OCTA)是一种非侵入性成像方式,可提供视网膜、脉络膜和视神经中血流的深度分辨图像。现总结有关OCTA在与眼科相关的阿尔茨海默病、帕金森病、多发性硬化症及视神经退行性疾病等神经系统疾病中的应用,并讨论其可否作为早期诊断和监测神经退行性疾病的重要工具。
Retinal microcirculation shares similar features with cerebral small blood vessels. Thus, the retina may be considered as an accessible ‘window’ to detect the microvascular damage occurred during the development and progression of neurodegenerative disorders. Optical coherence tomography angiography (OCTA) is a non-invasive imaging modality providing in-depth and high-resolved images of blood flow in the retina, choroid,and optic nerve. In this review, we summarize the current advances in the application of OCT-A in neurological diseases associated with ophthalmology such as Alzheimer’s disease, Parkinson’s disease, multiple sclerosis and optic nerve degenerative diseases. Future directions for evaluating whether OCTA can be used as an important tool to early diagnose and monitor the neurodegenerative disorders are also discussed.