蠕形螨是人类皮肤上最常见的寄生虫，在眼部主要寄居于毛囊、睑板腺及皮脂腺，可引起眼干、眼痒、异物感明显等眼部症状。目前已证实有2种寄生于人类的蠕形螨：毛囊蠕形螨和皮脂蠕形螨，二者均可诱发各类眼表疾病，如睑缘炎、睑板腺疾病、角膜病、翼状胬肉以及眼红斑痤疮等，但是由于疾病症状相似、检查遗漏以及认知不到位等主客观因素，该病易被误诊、漏诊。蠕形螨具有高度的年龄依赖性，并且可以在无症状的成年人中发现，因此蠕形螨的致病性一直存在争议，现有研究表明，蠕形螨可以通过直接损伤、诱发超敏反应和作为载体携带细菌等方式致病。蠕形螨的感染可以通过有效的手段进行检测，确诊后可通过热敷、眼睑清洁、局部或全身使用除螨药物进行治疗。了解蠕形螨在眼部疾病中的重要性对于准确诊断和适当的管理策略至关重要，近年来对于蠕形螨的研究越来越多，有必要对蠕形螨感染相关眼表疾病的诊断及治疗技术进行更新，因此本文综述了蠕形螨的病原学、流行病学、致病机制、检出方法，探讨了蠕形螨感染与各类眼表疾病之间的联系以及治疗方法，以期为蠕形螨感染相关眼表疾病的研究提供参考。

Demodex mites are the most common parasites found on human skin. They primarily reside in hair follicles, meibomian glands, and sebaceous glands of the eyes, and can trigger eye-related symptoms such as dry eyes, itchy eyes, and a pronounced foreign-body sensation. At present, it has been established that two types of Demodex mites parasitic in humans: Demodex follicle mite and Demodex sebum mite. Both types can induce various ocular surface diseases, including blepharitis, meibomian gland dysfunction, corneal disease, pterygium and ocular rosacea. However, due to subjective and objective factors, such as similar disease symptoms, omission of examination and a lack of awareness, these diseases are easy to misdiagnosis and underdiagnosis. Demodex mites exhibit a highly degree of age-dependence and can be detected in asymptomatic adults. Consequently, the pathogenicity of Demodex mites has been a subject of debate. Existing studies have shown that Demodex mites can cause diseases through direct injury, by inducing hypersensitivity reactions, and by acting as carriers for bacteria. Effective means are available for detecting Demodex mite infections. Treatment options include warm compresses, eyelid cleaning, and the use of topical or systemic anti-mite drugs. Understanding the significance of Demodex mites in ocular diseases is crucial for accurate diagnosis and the formulation of appropriate management strategies. In recent years, there has been a growing body of research on Demodex mite. It is necessary to update the diagnositic and therapeutic techniques  for ocular surface diseases associated with Demodex mite infection. Therefore, this paper reviews the etiology, epidemiology, pathogenic mechanism, and detection methods of Demodex mite. It also discusses the relationship between Demodex mite infection and various ocular surface diseases, as well as the corresponding treatment methods, with the aim of providing a reference for the research on ocular surface diseases related to Demodex mite infections. 

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, Yingjisha County, Kashi, 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.

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：了解干眼患者相关知识、管理态度及防治行为的现状及影响因素，为临床制定针对性的干预措施提供依据。方法：采用便利抽样法，选取2025年1—3月在中山大学中山眼科中心干眼与眼表疾病门诊就诊的患者为研究对象。调查工具为一般资料调查表、中国干眼问卷及干眼患者知信行问卷。知信行问卷包括知识（16个条目）、态度（7个条目）、行为（9个条目） 3个维度，共32个条目。使用单因素分析及多元线性回归分析确定影响因素。 结果：有效回收调查问卷325份，325例干眼患者的知信行问卷平均得分为（62.89±9.00）分；标准分为（78.61±11.25）分，处于中等水平。其中知识维度平均得分为（9.89±4.88）分，134例（41.2%）处于较差水平；态度维度得分较高，总均分为（26.92±2.24）分，标准分（96.16±8.03）分，处于较高水平；行为维度总均分为（26.06±5.43）分，标准分（72.41±15.09）分，处于中等水平。单因素分析结果显示，不同年龄、文化程度、家庭人均月收入、是否经常使用电子设备、是否主动查询疾病知识的干眼患者，其知信行得分比较差异有统计学意义（P<0.05）。年龄、文化程度、是否主动查询疾病知识是干眼患者知信行得分的影响因素（P<0.05）。 结论：干眼患者知信行水平处于中等，表现为疾病知识掌握片面、防治态度较积极但行为水平有待提高，且受多因素影响，应制订精准、个性化健康教育内容，以提高干眼患者的知信行水平。

Objective: To investigate the current status and identify the influencing factors regarding the knowledge, attitudes, and practices related to dry eye disease (DED) among patients. This study aims to provide a solid foundation for the development of targeted clinical interventions. Methods: With convenience sampling, patients diagnosed with DED were selected at the Dry Eye and Ocular Surface Disease Clinic of Zhongshan Ophthalmic Center from January to March 2025 as study subjects. The survey tools consisted of a general information questionnaire, the Chinese Dry Eye Questionnaire, and the Knowledge, Attitudes, and Practices (KAP) Questionnaire for DED patients. The KAP questionnaire was structured into three dimensions: knowledge (16 items), attitudes (7 items), and practices (9 items), making a total of 32 items. Univariate analysis and multiple linear regression were employed to identify influencing factors. Results: A total of 325 valid questionnaires were collected. Among the 325 DED patients, the average KAP score was 62.89±9.00, and the standardized score was 78.61±11.25, indicating a moderate level. In the knowledge dimension, the average score was 9.89±4.88 and 134 patients (41.2%) had poor scores. The attitudes dimension showed a relatively high level, with a total mean score of 26.92±2.24 and a standardized score of 96.16±8.03, reflecting that the patients generally held positive attitudes towards the prevention and treatment of DED. For the practices dimension, the total mean score was 26.06±5.43, and the standardized score was 72.41±15.09, indicating a moderate level of behaviorial practices. Univariate analysis revealed significant differences in KAP scores among patients with different ages, education levels, monthly household income per capita, frequencies of electronic device use, and whether they actively sought disease-related knowledge (P<0.05). Further, age, education level, and proactive information-seeking behavior were identified as significant influencing factors for KAP scores (P<0.05). Conclusions: The KAP level of DED patients is moderate. Their disease knowlege is fragmented, while they exhibit positive attitudes toward prevention and treatment. However, their behavioral practices are subptimal and are influenced by multiple factors. Therefore, it is essential to develop tailored and personalized health education programs to enhance the KAP level of DED patients.

中心性浆液性脉络膜视网膜病变（central serous chorioretinopathy，CSC）是一种以脉络膜增厚、血管通透性增加为特征的脉络膜谱系疾病，所以对脉络膜的观察对于CSC的监测和治疗非常重要。随着光学相干断层扫描成像（optical coherence tomography，OCT）的发展，对脉络膜的认识有了显著提升，也让我们更深刻地理解了它在眼后段疾病中的重要作用，提高了对各种脉络膜视网膜疾病的诊断能力。近年来，随着扫频源光学相干断层扫描（swept source optical coherence tomography，SS - OCT）及扫频源光学相干断层扫描血流成像（swept source optical coherence tomography angiography，SS - OCTA）的发展，其扫描波长、深度、广度及扫描速度均显著提升，实现了对脉络膜结构的无创定量化评估，推进了对CSC等脉络膜谱系疾病的病理机制的认识和临床管理。文章就近年SS-OCT及SS-OCTA在 CSC 中的应用及研究进展进行总结。主要进展有：发现CSC脉络膜增厚不仅局限于黄斑区，且发现其脉络膜血管及基质成分均显著增加；CSC为双眼受累，而表现为单眼症状；涡静脉回流障碍机制在该疾病中起到关键作用；SS-OCT能进一步对后极部的视网膜下积液进行监测和分析；发现了急性与慢性CSC脉络膜相关参数的改变的不同；最后探究了巩膜机制在该疾病中可能起到的作用。

Central serous chorioretinopathy (CSC) is one of the choroidal spectrum diseases, characterized by choriod thickening and increased vascular permeability. Therefore it is very important to observe choroid, as this allows us to monitor it and formulate an appropriate therapeutic schedule. With the development of optical coherence tomography (OCT), our understanding of choroid has been significantly improved. We have got a deeper insight into its important role in posterior diseases, and also the diagnostic capability for choroidal and retinal diseases has also improved. In recent years, the development of swept source optical coherence tomography (SS-OCT) and swept source optical coherence tomography angiogrphy (SS-OCTA) has further advanced our ability to assess choroidal conditions. These technologies offer enhanced scanning wavelengths, depth, breadth, and scanning speed, enabling non-invasive quantitative assessment of choroidal structures. This has advanced our understanding of the pathophysiological mechanisms and clinical management of CSC and other choroidal spectrum diseases.This review summarizes the application of swept source optical coherence tomography (SS - OCT) and swept source optical coherence tomography angiography (SS - OCTA) in CSC and its research progress. The main advancements include: choroidal thickening in CSC is not limited to macular area, both choroidal vascular and stromal components are significantly increased; CSC can affect both eyes, although it often presents with unilateral symptoms; impaired vortex vein outflow plays a key role in the pathogenesis of this disease; SS-OCT can further monitor and analyze subretinal fluid accumulation in the posterior pole; differences in changes in choroidal parameters between acute and chronic CSC have been identified; and finally, the potential role of scleral mechanisms in this disease have been explored.

音乐作为一种非侵入性的感官刺激，凭借其独特的治疗价值在医疗领域的应用日益广泛。文章综述了音乐在眼底诊疗领域的应用现状及研究进展。大量临床研究表明，音乐干预可以显著降低患者在眼科诊疗过程中的焦虑水平，改善医疗体验。在玻璃体腔注射、早产儿视网膜病变筛查、视野检查等不同临床场景中，音乐的应用均显示出积极效果。此外，在眼科模拟手术操作研究中，背景音乐的存在不仅没有对医生的手术操作造成干扰，反而可能通过调节术者的心理状态，优化手术环境。虽然音乐干预效果存在个体差异，不同患者对音乐类型、节奏和音量的偏好各异，但总体而言，作为一种安全、经济且易于实施的辅助手段，音乐疗法在眼底临床实践中展现出良好的应用前景。目前已有初步研究表明，音乐在糖尿病视网膜病变合并抑郁症的大鼠实验模型中可减少细胞凋亡并改善抑郁。未来需要开展更多严谨的随机对照试验，建立标准化的音乐干预方案，以充分发挥音乐在眼科诊疗中的积极作用。同时，也应该重视个体化治疗原则，根据患者的个人喜好和具体临床情况，制定合适的音乐干预策略。

Music, as a non-invasive sensory stimulus, has been increasingly applied in medical fields due to its unique therapeutic value. This article reviews the current applications and research progress of music in fundus examination and treatment. Extensive clinical studies have demonstrated that music intervention can significantly reduce patients' anxiety levels during ophthalmic procedures and improve their medical experience. Positive effects have been observed across various clinical scenarios, including intravitreal injections, retinopathy of prematurity screening, and visual field examinations. Furthermore, studies on simulated ophthalmic surgical procedures have shown that background music not only does not interfere with surgeons' operational performance but may actually optimize the surgical environment by regulating the operator's psychological state. Although the effectiveness of music intervention varies among individuals, with patients showing different preferences for music types, rhythms, and volumes, music therapy generally demonstrates promising potential in fundus clinical practice as a safe, economical, and easily implemented auxiliary measure. Preliminary studies have demonstrated that music can reduce cell apoptosis and improve depression in rat models of diabetic retinopathy complicated with depression. Looking forward, more rigorous randomized controlled trials are needed to establish standardized music intervention protocols to maximize the positive effects of music in ophthalmic treatment. Meanwhile, emphasis should be placed on the principle of individualized treatment, developing appropriate music intervention strategies based on patients' personal preferences and specific clinical conditions.

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.