随着智能手机覆盖率的增加与可用性的提升，实现智能健康管理的应用程序成为新兴研究热点。新一代智能手机可通过追踪步数，监测心率、睡眠，拍摄照片等方式进行健康分析，成为新的医学辅助工具。随着深度学习技术在图像处理领域的不断进展，基于医学影像的智能诊断已在多个学科全面开花,有望彻底改变医院传统的眼科疾病诊疗模式。眼科疾病的常规诊断往往依赖于各种形式的图像，如裂隙灯生物显微镜、眼底成像、光学相干断层扫描等。因此，眼科成为医学人工智能发展最快的领域之一。将眼科人工智能诊疗系统部署在智能手机上，有望提高疾病诊断效率和筛查覆盖率，改善医疗资源紧张的现状，具有极大的发展前景。综述的重点是基于深度学习和智能手机的眼病预防与远程诊疗的进展，以糖尿病性视网膜病变、青光眼、白内障3种疾病为例，讲述深度学习和智能手机在眼病管理方面的具体研究、应用和展望。
With the increasing coverage and availability of smart phones, the application of realizing intelligent health management has become an emerging research hotspot. The new generation of smart phones can perform health analysis by tracking the step numbers, monitoring heart rate and sleep quality, taking photos and other approaches, thereby becoming a new medical aid tool. With the continuous development of deep learning technology in the field of image processing, intelligent diagnosis based on medical imaging has blossomed in many disciplines, which is expected to completely change the traditional eye diseases diagnosis and treatment mode of hospitals. The conventional diagnosis of ophthalmic diseases often relies on various forms of images, such as slit lamp biological microscope, fundus imaging, optical coherence tomography, etc. As a result, ophthalmology has become one of the fastest growing areas of medical artificial intelligence (AI). The deployment of ophthalmological AI diagnosis and treatment system on smart phones is expected to improve the diagnostic efficiency and screening coverage to relieve the strain of medical resources, which has a great development prospect. This review focuses on the prevention and telemedicine progress of eye diseases based on deep learning and smart phones, taking diabetic retinopathy, glaucoma and cataract as examples to describe the specific research, application and prospect of deep learning and smart phones in the management of eye diseases.
糖基化是一种重要的蛋白质翻译后修饰，通常发生在内质网和高尔基体的特定位置。N-糖基化和O-糖基化是最常见的糖基化修饰类型。与其他翻译后修饰相比，糖基化具有独特的生物学意义，包括结构的复杂多样性，生物功能的重要性以及进化上的保守性。糖基化修饰对于蛋白质稳定性、细胞黏附与识别、细胞内信号传导和表观遗传学具有重要影响，从而参与调节细胞生物学和发病机制。近年来，越来越多的研究揭示了糖基化参与眼部疾病的发生和发展，包括眼表疾病、圆锥角膜、青光眼、年龄相关性黄斑变性、视网膜色素变性、糖尿病视网膜病变等。眼部蛋白糖基化异常可通过诱发新生血管形成、炎症反应、氧化应激、异常免疫应答等改变细胞的结构与功能，进而影响各种眼病的发生发展。通过深入研究糖基化在不同眼部疾病中的作用机制，可以为相关眼部疾病的早期诊断和治疗提供新的思路和方法。现综述糖基化在眼部疾病的研究进展，以探究调控蛋白质糖基化对眼部疾病的诊疗意义。
Glycosylation is an important post-translational modification of proteins that usually occurs at specific locations within the endoplasmic reticulum and Golgi apparatus. N-glycosylation and O-glycosylation are the most common types of glycosylation modifications. Compared to other post-translational modifications, glycosylation has unique biological significance, including structural complexity and diversity, crucial biological functions, and evolutionary conservation. Glycosylation modifications significantly impact protein stability, cell adhesion and recognition, intracellular signal transduction, and epigenetics, thereby regulating cellular biology and pathogenesis. In recent years, an increasing amount of research has revealed the involvement of glycosylation in the occurrence and development of ocular diseases, including ocular surface diseases, keratoconus, glaucoma, age-related macular degeneration, retinitis pigmentosa, and diabetic retinopathy. Abnormal glycosylation of ocular proteins can induce changes in cell structure and function through mechanisms such as neovascularization, inflammatory response, oxidative stress, and abnormal immune response, thereby influencing the occurrence and development of various eye diseases. By deeply studying the mechanisms of glycosylation in different ocular diseases, new insights and methods can be provided for the early diagnosis and treatment of related ocular diseases. This review summarizes the research progress of glycosylation in ocular diseases to explore the diagnostic and therapeutic significance of regulating protein glycosylation in ocular diseases.
近年来，眼部电流刺激(electrical stimulation,ES)在不同方向的研究中逐渐揭示了其在多种视网膜疾病中的潜在治疗价值。其中，经角膜电刺激(transcorneal electrical stimulation,TES)作为一种非侵入性的治疗方法，能对视网膜、视神经、眼底血管及其相关结构产生积极的影响。TES能够改善视力，在保护感光细胞和减缓疾病进展方面显示出积极效果，提高患者的生存质量，还能够在不损伤眼球的情况下调节大脑中的神经元活动，为视网膜疾病的治疗提供一种新的选择。该文对近年来TES在视网膜色素变性(retinitis pigmentosa,RP)、年龄相关性黄斑变性(age-related macular degeneration,AMD)、视网膜血管病、青光眼以及视神经病变等疾病中的应用研究进行了综述。研究发现，TES治疗是一种安全且无需手术的辅助治疗工具，具有广泛的应用前景。该文旨在为临床医师提供一个全面的TES研究概述，并深入探讨其在眼科学领域的潜在应用价值。然而，TES治疗的具体机制仍需进一步探讨，以便更好地应用于临床实践。同时，未来研究还应关注TES与其他治疗方法相结合的效果，以期为患者提供更多有效的治疗选择。
In recent years, electrical stimulation of the eye (ES) has gradually revealed its potential therapeutic value in a variety of retinal diseasesin different directions. Among them, transcorneal electrical stimulation (TES), as a non-invasive treatment, can have a positive effect on the retina, optic nerve, fundus vessels and related structures. TES can improve vision, show positive effects in protecting photoreceptor cells and slowing disease progression, improve the quality of life of patients, and can regulate neuronal activity in the brain without damaging the eyeball, providing a new option for the treatment of retinal diseases. The research on the application on TES on retinitis pigementosa (RP), age-related macular degeneration (AMD), retinal angiopathy, glaucoma and optic neuropathy are reviewed in this article. It is found in the study that TES therapy is a safe and surgery-free adjuvant therapy tool, and has a wide application prospect. The purpose of this article is to provide clinicians with a comprehensive overview of TES research,and to explore its potential application value in the field of ophthalmology. However, the specific mechanism of TES therapy still needs to be further explored in order to better apply in clinical practice. At the same time, future studies should also focus on the effect of combining TES with other treatment methods, in order to provide more effective treatment options for patients.
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.
巨噬细胞样细胞(macrophage-like cells, MLC)指起源、功能与巨噬细胞类似的免疫细胞，包括小胶质细胞、玻璃体细胞及巨噬细胞。将en face OCT显示层面设置在视网膜表明即可观测到视网膜表明的 MLC(epiretinal MLC, eMLC)，随后利用ImageJ软件即可对细胞进行提取和量化。研究表明，eMLC在炎症情况下均可出现细胞募集及活化现象，但在不同眼底病中各具特点。在糖尿病视网膜病变、视网膜静脉阻塞等视网膜缺血缺氧性疾病中，eMLC密度越高，黄斑水肿可能越严重。此外，eMLC密度更高的视网膜静脉阻塞患者抗VEGF疗效更差，视力预后不佳，提示基于en face OCT的eMLC不仅可用于评估视网膜炎情况，而且还能充当提示疾病疗效及预后的标志物。在葡萄膜炎等免疫炎症性疾病中，en face OCT亦可观测到eMLC密度、形态等改变。白塞病葡萄膜炎患者视网膜血管渗漏程度与eMLC密度相关性强，故eMLC密度可充当无创评估视网膜血管渗漏程度的新指标。然而，目前提取和量化eMLC的方法及标准不统一，降低了各研究间的可比性。因此，亟需制定统一的操作规范和评估标准。此外eMLC 所代表的具体细胞类型及功能仍需进一步探究。未来，研究者可以利用en face OCT对眼底炎症地进行无创评估。基于en face OCT的eMLC还能作为基础研究与临床研究之间的桥梁，为揭示疾病的致病机制提供重要参考。
Macrophage-like cells (MLC) refer to immune cells that originate from and function similarly to macrophages, including microglia, hyalocytes, and macrophages themselves. By setting the display level of en face OCT to the retinal surface, epiretinal MLC (eMLC) can be observed and subsequently extracted and quantified using ImageJ software. Studies indicate that eMLC can exhibit cell recruitment and activation in inflammatory conditions, each displaying distinct characteristics in different retinal diseases. In ischemic and hypoxic retinal conditions such as diabetic retinopathy and retinal vein occlusion, higher densities of eMLC are associated with more severe macularedema. Moreover, patients with retinal vein occlusion showing higher eMLC densities tend to have poorer responses to anti-VEGF treatments and worse visual prognoses, suggesting that eMLC identified via en face OCT can be used not only to assess retinal inflammation but also as biomarkers for disease efficacy and prognosis. In immune-inflammatory diseases like uveitis, changes in eMLC density and morphology can also be observed through en face OCT. Inpatients with Beh?et's disease, a strong correlation exists between the degree of retinal vascular leakage and eMLC density, making eMLC density a potential non-invasive marker for assessing retinal vascular leakage. However, the current methods and standards for extracting and quantifying eMLC are not unified, significantly reducing comparability between studies. Therefore, there is an urgent need to establish uniform operational protocols and assessment standards. Furthermore, the specific cell types and functions represented by eMLC observed via en face OCT require further investigation. In the future, en face OCT could be utilized for non-invasive assessment of retinal inflammation. eMLC based onen face OCT could also serve as a bridge between basic research and clinical studies, providing valuable insights into the pathogenic mechanisms of diseases.
CSNB是一组高度异质的遗传性视网膜疾病(inherited retinal disease, IRD)，主要由视网膜光感受器细胞和双极细胞间的信号传导障碍引发。其主要临床特征为静止性夜盲和暗适应功能障碍，常伴有早发性近视、眼球震颤、斜视和远视等症状，ERG在CSNB的诊断、分型及治疗指导中起着至关重要的作用。尽管CSNB发病率低，属于罕见病，但其真实发病率可能被低估，部分原因在于其症状轻微、眼底表现多不明显，且临床常忽视视网膜功能检查，导致较高的漏诊和误诊率。随着分子遗传学技术的进步，大量研究揭示了CSNB不同基因缺陷的致病机制，特别是与早发近视的关联机制，这些研究同也增加了对视网膜信号传导和近视发病机制的理解。然而，CSNB的基因治疗仍处于早期阶段。本综述旨在全面探讨CSNB的疾病谱，包括不同类型患者的临床表现、影像学和功能学表型特征，以及相关遗传学致病机制，并总结基因型与表型的关联。同时，综述最新研究成果与未来发展方向，旨在提高国内学者对CSNB的认识，为临床诊断和治疗提供参考，并为后续研究提供新思路。
Congenital Stationary Night Blindness (CSNB) represents a group of highly heterogeneous inherited retinal diseases (IRDs) primarily caused by impaired signal transmission between photoreceptor cells and bipolar cells in the retina. The main clinical features include stationary night blindness and dark adaptation dysfunction, often accompanied by early-onset myopia, nystagmus, strabismus, and hyperopia. Electroretinography (ERG) plays a crucial role in the diagnosis, classification, and therapeutic management of CSNB. Although CSNB is classified as a rare disease due to its low incidence, its true prevalence is likely underestimated, partly because of its mild symptoms, inconspicuous fundus manifestations, and frequent oversight of retinal function tests in clinical practice, leading to high rates of underdiagnosis and misdiagnosis. With advances in molecular genetics, extensive research has elucidated the pathogenic mechanisms of various genetic defects in CSNB, particularly those associated with early-onset myopia. These studies have also enhanced our understanding of retinal signal transduction and the pathogenesis of myopia. However, gene therapy for CSNB remains in its early stages. This review aims to comprehensively explore the disease spectrum of CSNB, including clinical manifestations, imaging and functional phenotypic characteristics across different subtypes, and associated genetic pathogenic mechanisms. We also summarize genotype-phenotype correlations, review the latest research advancements, and discuss future directions. By doing so, this review seeks to improve the understanding of CSNB among domestic researchers, provide guidance for clinical diagnosis and treatment, and offer new insights for future research.
“六要素，三个一”是眼底影像基础阅片工作中进行眼底疾病临床创新性研究的模式要点，即在眼底阅片过程中捕捉到1个异常的病例后，通过积累病例、提炼特征、文献检索、寻同查异，进而扩展到1组病例，最后通过思辨创新，提出或完善1种新的疾病或疾病表征。近二十年来，在此模式的指导下，团队在眼底疾病研究工作中取得了一些原创性的成果：比如息肉状脉络膜血管病变的认识及其在国人新生血管性年龄相关性黄斑变性中发病比例第一，提出点状内层脉络膜病变病灶国际分期和命名新亚型，年龄相关的吲哚菁绿血管造影晚期散在弱荧光点揭示潴留性视网膜色素上皮脱离的发病机制，发现急性黄斑神经视网膜病变是登革热患者视力下降的主要原因，在全球最大的持续性鳞状黄斑病变的病例系列中明确病灶层次等创新性成果。“六要素”框架规范眼底影像研究流程，强调研究过程的严谨性与渐进性，且多次循环后衍生发散出更多研究线索和思路，极大拓展研究深度和广度。“三个一”路径体现了研究的层次性，从个体现象(点)到群体规律(线)，最终构建疾病认知的立体网络(面)；指导眼底异常影像征象、罕见病、新病种研究，加速疾病谱系完善。以“六要素”为纲，以“三个一”为略，将继续推动眼底疾病临床研究的创新与突破。
The "6 Elements, 3 Ones" constitutes a methodological framework for conducting innovative clinical research of ocular fundus diseases in foundational fundus imaging interpretation. This model emphasizes: 1) identifying a single abnormal case during routine fundus evaluation; 2) systematically expanding this observation into a case series through case accumulation, feature extraction, literature review, and comparative analysis; and 3) ultimately proposing or refining novel disease entities or manifestations through critical thinking and innovation. Over the past two decades, guided by this paradigm, our research team has achieved several original breakthroughs in fundus imaging studies, including: establishing polypoidal choroidal vasculopathy as the predominant subtype of neovascular age-related macular degeneration in Chinese populations; proposing an international staging system and novel subtypes for punctate inner choroidopathy; elucidating the pathogenesis of retentional retinal pigment epithelial detachment through the sign of age-related scattered hypofluorescent spots on late-phase indocyanine green angiography; identifying acute macular neuroretinopathy as the primary cause of vision loss in dengue fever patients; and precisely localizing lesion in the world's largest case series of persistent placoid maculopathy. The "6 Elements" framework standardizes fundus disease research protocols, emphasizing methodological rigor and progressive investigation while generating multiple research trajectories through iterative cycles, thereby expanding both the depth and breadth of scientific inquiry. The "3 Ones" pathway embodies hierarchical research progression - transitioning from individual phenomena (point observations) to population-level patterns (linear correlations), ultimately constructing a multidimensional disease cognition network (planar integration). This approach guides investigations ranging from signs of common disease to rare disorders and novel disease entities, accelerating the refinement of disease taxonomies. By adhering to the "6 Elements" as the structural framework and implementing the "3 Ones" as the strategic pathway, we will continue to advance innovation and achieve breakthroughs in clinical fundus disease researches.
目的：研究IgG4相关性眼病(IgG4-related ophthalmic disease, IgG4-ROD)患者的影像学特征与外周血免疫球蛋白G4(IgG4)水平之间的相关性，为评估IgG4相关性疾病全身性严重程度提供新思路。方法：收集2023年8月—2024年9月在吉林大学第二医院眼科医院经术后组织标本病理确诊的29例IgG4-ROD阳性患者。回顾性分析患者眼眶影像学特点与血清IgG4水平相关性，探讨影像学中特征性表现包括泪腺肿大、三叉神经分支增粗、眼外肌增粗、鼻黏膜类炎症改变、眼睑软组织肥厚，以及其他眶内软组织增生等特征性影像学改变出现比例，并按照累及组织结构情况分级评分，评估特征性影像学改变与血清IgG4水平之间的相关性。结果：29例病理确诊IgG4-ROD患者中，泪腺均受累，占比100%；眼外肌受累17例，占比58.62%；三叉神经分支受累5例(4例眶下神经受累，3例额神经病受累，2例眶下神经与额神经同时受累)，占比17.24%眼睑软组织肥厚24例，占比82.76%鼻黏膜出现类炎症反应15例，占比51.72%；合并眶内其他软组织增生性病变2例，占比6.90%。影像学中特征性受累组织结构分级评分与血清IgG4水平呈正相关(P < 0.05)。结论：IgG4-ROD影像学中特征性组织结构受累及范围与血清IgG4水平明显相关，可以辅助评估IgG4相关性疾病全身性严重程度。
Objective: To investigate the correlation between the imaging characteristics of patients with IgG4-related ophthalmic disease (IgG4-ROD) and the serum immunoglobulin G4 (IgG4) levels, providing new insights for assessing the systemic severity of IgG4-related diseases. Methods: This study collected postoperative tissue samples from 29 patients with histopathologically conffrmed IgG4-ROD at the Ophthalmology Department of Jilin University Second Hospital from August 2023 to September 2024. TTis study retrospectively analyzed the correlation between patients' orbital imaging features and serum IgG4 levels, and explored the proportion of characteristic imaging changes including enlargement of the lacrimal gland, thickening of the trigeminal nerve branches, thickening of the extraocular muscles, inffammatory like changes of the nasal mucous membranes, hypertrophy of the eyelid soft tissues, as well as hyperplasia of other intraorbital soft tissues in the imaging. A grading score for affected tissue structures was established to evaluate the correlation between characteristic imaging changes and serum IgG4 levels. Results: Among the 29 patients diagnosed with IgG4-ROD, lacrimal gland involvement was observed in all patients (100%). Extraocular muscle involvement was present in 17 patients (58.62%). Five patients had involvement of the trigeminal nerve branches (including 4 with infraorbital nerve involvement and 3 with frontal nerve involvement, with 2 patients having simultaneous involvement of both nerves), accounting for 17.24% of the cases. Eyelid soff tissue hypertrophy was observed in 24 patients (82.76%), and nasal mucosal inflammatory responses were noted in 15 patients (51.72%). Additionally, two patients (6.90%) presented with other proliferative lesions within the orbit. The correlation analysis between the grading scores for imaging features and serum IgG4 levels demonstrated a significant positive correlation. Conclusions: The extent of characteristic structural involvement observed in the imaging features of IgG4-ROD is significantly correlated with serum IgG4 levels. TTis correlation can assist in evaluating the systemic severity of IgG4-related diseases and provides clinical evidence supporting the need for comprehensive systemic evaluations, such as PET-CT, in patients whose initial presentation is IgG4-related ophthalmic disease.
目的：了解中山大学中山眼科医院门诊重症疑难眼病会诊的现状，探讨门诊重症疑难眼病会诊亚专科的分布情况及会诊效果，为建立科学的门诊重症疑难眼病会诊体系提供支持和依据，同时也为合理安排会诊流程提供依据。方法：对中山大学中山眼科医院2016年3月至2017年4月收集的265例门诊重症疑难病例，通过时间、地区、性别、年龄、会诊原因、会诊亚专科、会诊后的转归及效果等方面进行统计分析，所有数据均通过Excel软件进行录入，根据分析目的和资料的类型，采用相应的统计指标进行描述，并进行统计推断，检验水准为α=0.05。结果：2016年3月至2017年4月期间中山大学中山眼科医院门诊重症疑难眼病会诊人数265例。在地区分布中，广东省地区最多，为145例，外国最少，为3例。人群分布中，男167例，女98例，男女比例为1.70:1。年龄分布中，30~44岁及45~59岁的病例数最多，均为53例(20%)，70岁以上老年病例最少，为13例(4.9%)。中山大学中山眼科医院门诊重症疑难眼病会诊中，2016年3月至2017年4月期间，各眼科亚专科共参加会诊714次，眼底外科参加会诊次数最多，为147次(20.5%)，结膜科参加会诊的次数最少，为1次(0.1%)。在分析会诊原因方面，因诊治涉及多个专科而会诊的病例数最多，为161例，因病因不明会会诊的病例最少，为20例；会诊后比会诊前明确治疗方案的病例数增加190例。结论：中山大学中山眼科医院门诊组织实施重症疑难眼病会诊使明确治疗方案率大幅提高，在提高疑难眼病治疗效果方面起到一定的促进作用。
Objective: To understand the current situation of the consultation for outpatients with severe eye disease in Zhongshan Ophthalmic Center, and to explore the distribution and effects of sub-specialty consultation for outpatients with severe eye disease. To set up a scientific system of the consultation for outpatients with severe eye disease, and also provide a basis for reasonable arrangement of consultation process. Methods: We analyzed 265 severe cases from March 2016 to April 2017 in Zhongshan Ophthalmic Center by time, region, gender, age, cause of consultation, sub-specialty, and outcomes after consultation. And all data was analyzed by Excel software, according to the purpose and the type of data, and the corresponding statistical index and statistical inference, inspection level for α=0.05. Results: There were 265 cases with severe eye disease from March 2016 to April 2017. As for the regional distribution, Guangdong province was the largest, with 145 cases, while the lowest number was from foreign countries, which was 3 cases. In the population distribution, 167 cases were males, 98 were females and the ratio was 1.70. In age distribution, patients aged from 30 to 44 years and 45 to 59 years predominated and the number of cases were both 53, accounting for 20% of the total number. Patients over 70 were the least which were 13 cases, accounting for 4.9% of the total number. From March 2016 to April 2017, all sub-specialties attended consultation for 714 times, as Ocular Fundus Department attended the most, accounting for 20.5% of the total number while Conjunctive Department attended the least, for only one, accounting for 0.1% of the total number. As for the reason of the consultation, the number of cases involving multiple specialties was the largest, with 161 cases, while the lowest number of cases due to unexplained causes, which were 20 cases. The number of cases of explicit treatment was increased by 190 after consultation. Conclusion: Consultations organized by Zhongshan Ophthalmic Center improves the treatment for outpatients with severe eye disease.
