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.

目的：总结并分析视野为中心暗点的视神经病变的病因和临床特点，为临床诊治提供参考。方法：回顾性病例研究。分析2018年8月至2020年3月期间，在中山大学中山眼科中心神经眼科专科门诊就诊，视野表现为中心暗点且随访1年以上的视神经病变患者的资料。患者双眼均行最佳矫正视力、眼压、裂隙灯显微镜及前置镜、频域光学相干断层扫描、视野、颅脑和眼眶核磁共振检查，静脉采血行血常规、血生化、肝肾功能、感染指标(乙肝、丙肝、梅毒、HIV及结核T-spot)检查及Leber遗传性视神经病变的线粒体DNA和OPA1基因检测。结果：共纳入20例患者，病因诊断构成为：Leber遗传性视神经病变9例(45%)，显性视神经萎缩2例(10%)，乙胺丁醇中毒性视神经病变6例(30%)，营养性视神经病变2例(10%)和特发性脱髓鞘性视神经病变1例(5%)。遗传性视神经病变的视力预后差，特别是Leber遗传性视神经病变，78%的随访视力(≥1年)不高于0.1。伴有mtDNA或OPA1基因突变的乙胺丁醇中毒性视神经病变患者，视力预后差。结论：视野为中心暗点表现的视神经病变，主要为遗传、中毒和营养性视神经病变。遗传性视神经病变具有不完全外显率的特点，视野为中心暗点的视神经病变需行基因检测排除遗传性视神经病变。

Objective: To summarize and analyze the etiology and clinical features of optic neuropathy with visual field defect of central scotoma as a reference for clinical diagnosis and treatment. Methods: In the retrospective case study, the data of patients admitted in Neuro-ophthalmic Department of Zhongshan Ophthalmic Center of Sun Yat-sen University from August 2018 to March 2020, who presented with visual field defect of central scotoma and were followed up for more than 1 year, were analyzed. Both eyes of all the patients underwent best corrected visual acuity, intraocular pressure, slit lamp microscope and front mirror, spectral domain optical coherence tomography, humphry visual field tests and MRI of brain and orbit. We examined the blood routine, biochemical test, renal and liver function, infection indicators (hepatitis B, hepatitis C, syphilis, HIV and tuberculosis T-spot), mitochondrial DNA and OPA1 gene detection of Leber hereditary optic neuropathy. The follow-up time of the patients in neuro-ophthalmic department was more than 1 year. Results: A total of 20 patients were recruited. Among them, the etiological diagnosis consisted of 9 patients of Leber hereditary optic neuropathy (45%), 2 of dominant optic atrophy (10%), 6 of ethambutol-induced optic neuropathy (30%), 2 of nutritional optic neuropathy (10%) and 1 of idiopathic demyelinating optic neuropathy (5%). The patients with hereditary optic neuropathy showed a poorer visual prognosis, especially Leber hereditary optic neuropathy, with 78% of follow-up visual acuity (≥1 year) not higher than 0.1. The visual prognosis of ethambutol-induced optic neuropathy patients with mtDNA or OPA1 gene was poor. Conclusions: The optic neuropathy of visual field defects with central scotoma includes mainly hereditary, toxic and nutritional optic neuropathy. Hereditary optic neuropathy is characterized by incomplete penetrance, and genetic testing is required to exclude hereditary optic neuropathy if the visual field is the central scotoma.

外伤性视神经病变是因外力损伤视神经，进而严重损害视力的致盲性眼病。自噬是一种细胞内降解途径，有助于维持细胞正常组分合成与受损细胞器及有毒细胞成分的分解之间的平衡。视神经受创后，视神经和视网膜中自噬标志物增加。自噬在外伤性视神经病变的不同阶段对视网膜神经节细胞可能起不同作用。多数研究表明，上调自噬可以减轻外伤性视神经病变中视网膜神经节细胞的死亡；也有研究提示在视神经损伤后极早的时期抑制自噬可以抑制视网膜神经节细胞轴突变性。该文对自噬的定义及功能、自噬的发生机制、视神经创伤后自噬水平改变、自噬在视神经创伤后对视网膜神经节细胞的作用的研究结果进行综述。

Traumatic optic neuropathy is a blinding eye disease that causes severe damage to vision due to external force damage to the optic nerve.. Autophagy is an intracellular degradation pathway that helps maintain the balance between the synthesis

of normal cell components and the breakdown of damaged organelles and toxic cellular components. Autophagy markers are increased in optic nerve and retina after optic nerve trauma. Autophagy may play different roles on retinal ganglion cells (RGCs) at different stages of traumatic optic neuropathy. Most studies have shown that upregulating autophagy can attenuate RGCs death in traumatic optic neuropathy; however, it has also been suggested that inhibition of autophagy at ultra-early stage after injury can inhibit RGCs axonal degeneration. In this review, we reviewed the definition and function of autophagy, the mechanism of autophagy, and summarized the change of autophagy level after optic nerve trauma, as well as the effects of autophagy in RGCs after optic nerve trauma.

帕金森病（Parkinson’s disease, PD）作为仅次于阿尔茨海默病的第二大神经退行性疾病，其眼部表现近年来逐渐成为跨学科研究热点。以往医生多关注运动迟缓、静止性震颤和肌强直等PD典型症状，但大量临床研究表明，眼睑异常、眼球运动障碍、视觉功能异常等眼部表现不仅普遍存在于PD患者中，更可能在典型运动症状出现前就已显现。长期以来，这些眼部症状因其他症状的掩盖往往被忽视，进一步降低了患者的生活质量。本综述系统梳理PD患者眼部表现的三大方面：首先，眼睑异常方面，PD患者瞬目频率降低，61.1%患者出现干眼症状，导致PD患者的生活质量进一步下降。其次，眼球运动障碍表现为特征性的阶梯式方波急跳、集合功能减退以及反向扫视错误率增加，其中反向扫视潜伏期延长对步态冻结的发生具有预测价值。最后，视觉功能障碍方面，PD患者可出现视敏度下降、色觉异常、对比敏感度受损和视幻觉。影像学检查观察到视网膜神经节细胞层变薄，伴随视网膜微血管密度降低，这些结构性改变与PD患者的视觉功能障碍有关，作为生物标志物具有独特潜力。神经内科-眼科联合诊疗模式不仅有助于PD的早期诊断和预后评估，更有助于临床医生全面理解PD的疾病机制和表现，为未来诊疗策略的优化提供客观依据。

Parkinson’s disease (PD), the second most common neurodegenerative disorder after Alzheimer’s disease, has increasingly garnered interdisciplinary research attention due to its ocular manifestations. While the classical triad of motor symptoms—bradykinesia, resting tremor, and rigidity—remains the diagnostic hallmark, accumulating clinical evidence indicates that ocular abnormalities, including eyelid dysfunction, oculomotor disturbances, and visual impairments, are not only prevalent in PD patients but may also precede the onset of typical motor symptoms. Historically overlooked due to masking by other clinical features, these ocular manifestations contribute to the deterioration of patients' quality of life. This review systematically examines PD-related ocular abnormalities across three key domains: First, eyelid dysfunction manifests as reduced blink frequency, with 61.1% of PD patients reporting dry eye symptoms, further exacerbating their life quality impairment. Second, oculomotor disturbances are characterized by staircase-pattern square-wave jerks, convergence insufficiency, and increased error rates in antisaccade tasks, with prolonged antisaccade latency serving as a predictive marker for freezing of gait. Third, visual dysfunction encompasses diminished visual acuity, dyschromatopsia, impaired contrast sensitivity, and visual hallucinations. Imaging studies reveal structural alterations such as retinal ganglion cell layer thinning and reduced retinal microvascular density, which correlate with visual deficits and hold promise as potential biomarkers. The establishment of a neuro-ophthalmological collaborative framework not only facilitates early PD diagnosis and prognostic assessment but also enhances clinicians' comprehensive understanding of disease mechanisms. Such an approach provides an objective foundation for optimizing future therapeutic strategies.