近年来，使用人工智能(artificial intelligence，AI)技术对临床大数据及图像进行分析，对疾病做出智能诊断、预测并提出诊疗决策，AI正逐步成为辅助临床及科研的先进技术。生物样本库作为收集临床信息和样本供科研使用的平台，是临床与科研的桥梁，也是临床信息与科研数据的集成平台。影响生物样本库使用效率及合理共享的因素有信息化建设水平不均衡、获取的临床及检验信息不完全、各库之间信息不对称等。本文对AI和区块链技术在生物样本库建设中的具体应用场景进行探讨，展望大数据时代智能生物样本库信息化建设的核心方向。
In recent years, artificial intelligence (AI) technology has been applied to analyze clinical big data and images and then make intelligent diagnosis, prediction and treatment decisions. It is gradually becoming an advanced technology to assist clinical and scientific research. Biobank is a platform for collecting clinical information and samples for scientific research, serving as a bridge between clinical and scientific research. It is also an integrated platform of clinical information and scientific research data. However, there are some challenges. First, clinical and laboratory information obtained is incomplete. Additionally, the information among different databases is asymmetric, which seriously impedes the information sharing among different Biobanks. In this article, the specific application scenarios of AI technology and blockchain in the construction of a Biobank were discussed, aiming to pinpoint the core direction of the information construction of an intelligent Biobank in the era of big data.
当下，我国眼科的发展存在失衡现象，大城市与农村及偏远地区在眼科相关诊疗设施水平、诊疗技术等方面存在巨大差异，仍需探寻新的智能诊疗模式以解决失衡问题。由于眼球是唯一可以直接观察人体血管和神经的器官，眼部可反映其他脏器的健康状态，部分眼科检查的医学图像可对眼部疾病做出诊断等特点，眼科开展人工智能(artificial intelligence，AI)具有独到的优势。此外，人工智能可在一定程度上提高跨时间空间传递信息的精准度及效率。人工智能在眼科及远程信息传递的优势为解决眼科发展失衡状况提供了助力。本文从眼科人工智能在眼科远程医疗相关应用的角度，主要分析并总结当下我国人工智能在眼科相关疾病远程医疗中的发展程度、所具优势以及存在问题，并讨论眼科人工智能在远程医疗的应用展望。
At present, there is an imbalance in the development of ophthalmology in China. There are huge differences in the level of ophthalmology related facilities, diagnosis and treatment technologies between big cities and rural, remote areas. New intelligent diagnosis and treatment models are still needed to solve the imbalance. Since the eye is the only organ that can directly observe the blood vessels and nerves of the human body, the eye can reflect the health status of other organs and diagnosis of eye diseases based on medical images of some ophthalmic examinations can be made as well as other characteristics. Therefore, the development of artificial intelligence in ophthalmology has unique advantages. In addition, artificial intelligence can improve the accuracy and efficiency of information transmission across time and space to a certain extent. The advantages of artificial intelligence in ophthalmology and telematics are helping to solve the imbalance in ophthalmology development. From the perspective of the application of ophthalmic artificial intelligence in telemedicine, this paper mainly analyzes and summarizes the development degree, advantages and existing problems of artificial intelligence in the telemedicine of ophthalmic diseases in China, and discusses the prospect of the application of ophthalmic artificial intelligence in telemedicine.
帕金森病(Parkinson’s disease，PD)是老年人常见的神经系统退行性疾病，眼部及视觉功能障碍是PD常见的非运动症状之一，进一步影响其生活质量。已有研究表明PD患者视网膜内存在多巴胺浓度的减少以及α突触核蛋白的沉积。目前，PD仍缺乏有效的早期诊断及病情评估工具，光学相干断层扫描及光学相干断层扫描血管成像技术可以显示视网膜各层微细结构及微血管的异常，应用该技术研究者发现PD患者视乳头旁视网膜神经纤维层及黄斑区视网膜的厚度均存在不同程度的变薄，视网膜浅层及深层毛细血管丛的毛细血管密度和复杂性下降。进一步研究者应用该技术在PD临床应用中进行了探索，并发现其可用于检测早期PD中发生的病理变化，反映疾病的病程及严重程度，并且在鉴别诊断中起到一定的作用。总而言之，视网膜相关检测可能成为评估PD患者脑病理严重程度的指标，并且帮助疾病诊断和监测疾病的进展，不过这仍需要大样本、多中心的重复研究以提供更多理论依据。
Parkinson’s disease is a common neurodegenerative disease in the elderly, and ocular and visual dysfunction is one of the common non-motor symptoms of PD, further affecting PD patients’quality of life. Reduced dopamine concentrations and deposition of α-synuclein in the retina of PD patients have been shown in studies. At present, there is still a lack of effective tools for early diagnosis and assessment of PD. Optical coherence tomography and optical coherence tomography angiography can reveal abnormalities in the microstructure and microvasculature of the retinal layers, and researchers applying these techniques have found that the thickness of the parapapillary retinal nerve fiber layer and the retina in the macula in PD patients have had varying degrees of thinning, and the density and complexity of capillaries in the superficial and deep capillary plexus of the retina have been reduced. Further, investigators have explored the clinical application of these techniques in PD and have found that they can be used to detect pathological changes occurring in early PD, reflect the course and severity of the disease, and play a role in differential diagnosis. In conclusion, retinal-correlated testing may be an indicator to assess the severity of brain pathology in PD patients and to aid in disease diagnosis and monitoring the progression of PD, although large sample, multicenter replication studies are still needed to provide more reliable results.
目的：调查新疆喀什地区英吉沙县芒辛镇60岁及以上老年人群眼底疾病患病率及其分布特征，分析该地区眼底疾病流行病学现状，为西部高海拔地区眼底疾病防控策略制定和基层眼健康服务体系建设提供科学依据和数据支撑。方法：采用横断面研究设计，于2024年5—6月对芒辛镇60岁及以上常住人口进行调查。纳入标准为年龄≥60岁、在当地连续居住≥6个月、自愿参与并签署知情同意书者。=采用标准化眼科检查包括视力测定、眼压、裂隙灯显微镜检查、眼底照相等，同时进行结构化问卷调查收集基本信息、生命体征测量和实验室检查。眼底疾病诊断严格按照国内外相关诊断标准执行，采用SPSS24.0软件进行统计分析，计算各类眼底疾病患病率及其95%置信区间。结果：共调查1 310名老年人，响应率为76.76%。研究对象中男性669人（51.1%），女性641人（48.9%），平均年龄68.4±6.6岁。眼底疾病总患病率为16.1%（95% CI：14.2~18.0）。各类眼底疾病患病率依次为：年龄相关性黄斑变性5.9%（77例），视神经萎缩2.8%（36例），黄斑前膜2.3%（30例），糖尿病性视网膜病变1.8%（23例），其他黄斑病变1.07%（14例）、高血压性视网膜病变0.99%（13例）。其他眼底疾病包括高度近视眼底改变、视网膜色素变性、黄斑裂孔、血管炎、视网膜出血等，患病率均低于0.38%。在糖尿病患者中，糖尿病性视网膜病变患病率为20.8%，与国内外相关研究结果基本一致。结论：新疆芒辛镇老年人群眼底疾病患病率较高，年龄相关性黄斑变性是最主要的眼底疾病类型。研究结果填补了西部高海拔地区眼底疾病流行病学数据空白，提示应建立针对性的分层筛查和防控体系，重点关注老年人的眼底健康管理，推广便携式眼底照相结合远程医疗的筛查模式，提升基层眼健康服务的可及性与质量。
Objective: To investigate the prevalence and distribution characteristics of fundus diseases among the elderly population aged 60 and above in Mangxin Town, Yengisar County, Kashgar Prefecture, Xinjiang, and to analyze the epidemiological status of fundus diseases in this region, thereby providing a scientific basis and data support for the development of fundus disease prevention and control strategies and the construction of a primary eye health service system in high-altitude areas of Western China. Methods: A cross-sectional study was conducted from May to June 2024 among the permanent residents aged 60 and above in Mangxin Town. Inclusion criteria were age ≥ 60 years, local residence for ≥ 6 months, and voluntary participation with signed informed consent. Data were collected through standardized ophthalmological examinations (including visual acuity testing, intraocular pressure measurement, slit-lamp microscopy, and fundus photography), structured questionnaire surveys, vital sign measurements, and laboratory tests. Diagnoses of fundus diseases were strictly based on domestic and international diagnostic criteria. Statistical analysis was performed using SPSS 24.0 to calculate the prevalence rates of various fundus diseases and their 95% confidence intervals. Results: A total of 1,310 elderly individuals were included, with a response rate of 76.76%. Among them, 669 (51.1%) were male and 641 (48.9%) were female, with a mean age of 68.4 ± 6.6 years. The overall prevalence of fundus diseases was 16.1% (95% CI: 14.2–18.0). The prevalence rates of specific fundus diseases were as follows: age-related macular degeneration, 5.9% (77 cases); optic atrophy, 2.8% (36 cases); epiretinal membrane, 2.3% (30 cases); diabetic retinopathy, 1.8% (23 cases); other macular diseases, 1.07% (14 cases); and hypertensive retinopathy, 0.99% (13 cases). Other fundus diseases, including high myopia-related fundus changes, retinitis pigmentosa, macular hole, vasculitis, and retinal hemorrhage, each had a prevalence of less than 0.38%. Among diabetic patients, the prevalence of diabetic retinopathy was 20.8%, which is consistent with previous domestic and international studies. Conclusions: The prevalence of fundus diseases among the elderly in Mangxin Town, Xinjiang, is relatively high, with age-related macular degeneration being the most common type. This study fills a gap in the epidemiological data on fundus diseases in high-altitude regions of Western China. The findings highlight the need to establish a targeted stratified screening and prevention system, strengthen fundus health management in the elderly, and promote a screening model combining portable fundus photography with telemedicine to improve the accessibility and quality of primary eye health services.
脂质运载蛋白2（LCN2/NGAL）是一种多效性分泌糖蛋白，通过调控铁代谢、炎症反应及细胞死亡（铁死亡、凋亡）等机制，广泛参与眼科疾病的病理进程。生理状态下，LCN2在角膜上皮、视网膜神经节细胞层等部位低表达；病理条件下，其表达显著上调且功能呈现高度背景依赖性。在各类眼科疾病（如干眼症、角膜疾病、葡萄膜炎、青光眼、视网膜疾病等）中，既可表现为促炎促凋亡的致病因子，亦能发挥抗炎保护作用。靶向调控LCN2表达或其下游通路可能为眼科疾病治疗提供新策略。
Lipocalin-2 (LCN2/NGAL) is a multifunctional secretory glycoprotein that plays a critical role in the pathogenesis of ophthalmic diseases by regulating iron metabolism, inflammatory responses, and cell death pathways (ferroptosis, apoptosis). Under physiological conditions, LCN2 is expressed at low levels in tissues such as the corneal epithelium and retinal ganglion cell layer. However, its expression is significantly upregulated under pathological conditions, exhibiting highly context-dependent functionality. In major ophthalmic diseases—including dry eye disease, corneal disorders, uveitis, glaucoma, and retinal diseases—LCN2 can act either as a pro-inflammatory and pro-apoptotic pathogenic factor or as an anti-inflammatory protective agent. Targeted modulation of LCN2 expression or its downstream pathways may offer novel therapeutic strategies for ocular diseases.
本文应用接触式和非接触式角膜内皮照相机对 4 例虹膜角膜内皮综合征（包括 2 例 Chandler's 综合征、1 例 Cogan-Reese 综合征和 1 例进行性实质性虹膜萎缩）作角膜内皮细胞观察照相研究。可见病眼角膜内皮细胞均有相同的病理性形态学改变，结合临床表现和病理学检查所见，提示这几种不同表现的病变有可能是具有相同发病学基础的同一种疾病，亦支待这一类病变的基本病因是角膜内皮细胞的异常增殖所致，而且健眼角膜内皮细胞亦可见有改变，说明双眼可受影响。本文对内皮细胞密度的变化、角膜内皮细胞异常增殖和神经嵴细胞分化学说作了讨论。
Clinical contact and non-contact specular microscopic examination in 4 patients with iridocorneal endothelial syndrome (including 2 cases of Chandler's syndrome, 1 case of Cogan-Reese syndrome and l case of essential iris atrophy) showed that the affected eyes had the same morphological changes. From the clinical and pathologic examinations, it is shown that this spectrum of syndrome may be the different manifestations of the same pathogenic disease and the basic pathogenic event is abnormal proliferation of the corneal endothelium that could also be seen in the contralateral eye.
本文介绍用韩氏二重 15 色相测试的 Farn-sworth 色相配列法应用于色觉检查，此法比其他临床常用的色觉检查具有色觉障碍分型和定量分析的优点， 同时方法简便易懂。本文报告应用此法于先天性色盲和继发性色盲患者，其红色盲、绿色盲、红绿色盲、蓝色 盲、全色盲等及不同色觉异常程度的变异的实例。
The application of Farnsworth dichotomous test for color blindness using Hahn Double 15-Hue is introduced. The advantages of this method compared with other clinical color tests are that it is simple and can classify the types of color defect and analyse the defect quantitatively. This method applied to the patients with congenital and acquired color blindness, such as prota-, deutera-and tritanopia, protano-, deuteranomalopia, achromatopia and abnormal extent of color defect is reported.
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.
目的：探讨蛋白A免疫吸附联合糖皮质激素治疗对MOG抗体相关视神经炎（MOG antibody-associated optic neuritis， MOG-ON）患者的临床疗效及安全性。方法：回顾性分析2022年6月—2024年12月在广东三九脑科医院神经内科确诊并接受蛋白A免疫吸附联合糖皮质激素治疗的7例MOG-ON患者。所有患者均接受蛋白A免疫吸附治疗（隔天1次，共5次为1个疗程）并同期联合糖皮质激素治疗。评估治疗前及治疗后3个月、6个月的视力变化、扩展伤残状态量表（expanded disability status scale，EDSS）评分变化及MOG抗体滴度变化，并记录不良反应。结果：治疗后6个月，6/7患者视力较治疗前改善，其中4/7视力改善显著。左眼LogMAR视力值从治疗前的0.20(0.14，0.70)改善至0.10(0.10，0.42)，右眼LogMAR视力值从0.30(0.19，0.47)改善至0.18(0.10，0.21)，EDSS视力评分从2.86±1.68降至1.43±1.51（P < 0.05）。治疗前血清MOG抗体滴度几何平均数为1:52.0（几何标准差GSD = 3.7），治疗后3个月降至1:8.8（GSD = 1.9）（P = 0.027），治疗后6个月降至1:13.0（GSD = 4.1）（P = 0.027）。7例患者共接受35次免疫吸附治疗，未观察到严重不良反应，仅有轻微可控的不良事件。结论：蛋白A免疫吸附联合糖皮质激素治疗能够有效降低血液中MOG抗体水平，改善MOG-ON患者的视力。
Objective: To investigate the clinical efficacy and safety of protein A immunoadsorption combined with glucocorticoid therapy in patients with myelin oligodendrocyte glycoprotein antibody-associated optic neuritis（MOG-ON）. Methods: A retrospective analysis was conducted on 7 patients with MOG-ON who were diagnosed and treated with protein A immunoadsorption combined with glucocorticoid therapy at the Department of Neurology，Guangdong Sanjiu Brain Hospital from June 2022 to December 2024. All patients underwent protein A immunoadsorption therapy （once every other day, with 5 sessions constituting one course） in conjunction with concurrent steroid therapy. Visual acuity changes, EDSS score changes, and MOG antibody titer changes were assessed before treatment, as well as at 3 and 6 months after treatment. Additionally, adverse events were meticulously recorded. Results: At the 6 months post-treatment mark, 6 patients （85.7%） demonstrated an improvement in visual acuity compared to their baseline levels, with 4 patients （57.1%） achieving a significant improvement. The median LogMAR visual acuity values in the left eye improved from 0.20(0.14,0.70) to 0.10(0.10,0.42), and in the right eye, they improved from 0.30(0.19,0.47) to 0.18(0.10,0.21). MeanWhile, the EDSS visual score decreased from 2.86±1.68 to 1.43±1.51（P < 0.05）. The geometric mean serum MOG antibody titer declined from 1:52.0（GSD = 3.7） before treatment to 1:8.8（GSD = 1.9） at 3 months after treatment（P = 0.027）, and further decreased to 1:13.0（GSD = 4.1） at 6 months after treatment（P = 0.027）. A total of 35 immunoadsorption sessions were administered to the 7 patients, and no serious adverse reactions were observed; only minor and manageable adverse events occurred. Conclusion: Protein A immunoadsorption combined with glucocorticoid therapy can effectively lower serum MOG antibody levels and enhance visual outcomes in patients with MOG-ON.
