论著

基于高通量测序分析鉴别视网膜病变中的神经纤维瘤病

Identification of neurofibromatosis in retinopathy based on high-throughput sequencing analysis

:381-394
 
目的:通过高通量测序分析进行基因诊断,鉴别视网膜病变中的神经纤维瘤病,为其早诊早治提供重要依据。方法:回顾性分析眼遗传病高通量测序数据库中的NF1和NF2基因变异,根据ACMG/AMP指南解析变异致病性;进一步结合患者的临床表型、家族史以及其他检查结果,综合判断明确是否患有神经纤维瘤病,同时进行疾病的进展和随访的研究分析。结果:通过分析不同眼部表型家系的高通量测序结果,共在11例先证者中发现NF1和NF2基因的10个可能致病变异,包括7个NF1变异和3个NF2变异。这11例先证者的初始诊断包括家族性渗出性玻璃体视网膜病变、黄斑/视网膜发育不良、斜视、视网膜色素变性、Coats病和牵牛花综合征等。其中,在1例初诊为家族性渗出性玻璃体视网膜病变的患儿中,检测到3个基因的致病变异,即NF2: c.122G>A/p.(W41*)、RS1: c.520C>T/p.(R174W)和NYX: c.1027C>T/p.(R343C)。随访检查发现,该患儿的复杂眼部表型符合NF2、RS1和NYX致病变异的临床改变,且MRI检查发现双侧前庭神经鞘瘤、脊髓室管膜瘤和多发性神经鞘瘤改变。除该患者外,还有4例患者在随访中发现存在牛奶咖啡斑或雀斑样色素沉着等皮肤改变,1 例合并小脑神经纤维瘤浸润。结论: 高通量测序分析能有效检测出神经纤维瘤病相关基因的变异,有助于筛选非典型表现的神经纤维瘤病,为疾病的早期诊断,尤其是对严重中枢神经系统病变的早期筛查和及时干预,提供了重要依据。
Objective: To identify neurofibromatosis in retinopathy through high-throughput sequencing analysis and provide important indicators for early diagnosis and treatment. Methods: Variants in NF1 and NF2 were selected from in-house high-throughput sequencing, including targeted exome sequencing, exome sequencing and whole genome sequencing, of individuals with different eye conditions. Pathogenic or likely pathogenic variants were assessed according to ACMG/AMP criteria. All the available clinical data, including clinical manifestation, family history and other examination results, were summarized and further analyzed to determine whether neurofibromatosis. Results: Based on the results of in-house high-throughput sequencing, a total of ten pathogenic or likely pathogenic variants in NF1 and NF2 were identified in 11 unrelated cases with various eye conditions, including three NF2 variants in four cases and seven NF1 variants in seven cases. The unrelated cases with NF1 and NF2 variants had initial clinical manifestation similar to familial exudative vitreoretinopathy (FEVR), macular or retinal dystrophy, strabismus, retinitis pigmentosa, Coats disease, or morning glory syndrome. In one of these cases, who was diagnosed as FEVR at the initial visit, three pathogenic variants of three different genes were identified, namely NF2: c.122G>A/p.(W41*), RS1: c.520C>T/p.(R174W) and NYX: c.1027C>T/p.(R343C). Follow-up examination on this case revealed a complex retinopathy, which were consistent with clinical presentations due to pathogenic variants in NF2, RS1, and NYX, as well as bilateral vestibular schwannomas, spinal ependymoma and multiple schwannomas by MRI. In addition to this patient, a follow-up examination on four of the seven cases present Café-au-lait macules or freckling, which could be easily neglected if neurofibromatosis is not realized on the initial visit, while one had neurofibromatosis in cerebellum. Conclusions: Complex retinopathy may present as the initial sign of neurofibromatosis, and high-throughput sequencing analysis for neurofibromatosis related genes contribute to early diagnosis of neurofibromatosis and facilitating early identification of vital systemic complication.
综述

糖尿病前期和糖尿病视网膜病变临床前期的视网膜改变

Retinal changes in pre-diabetes and pre-clinic diabetes retinopathy

:454-460
 
糖尿病视网膜病变(diabetic retinopathy,DR)是世界范围内劳动年龄人口视力损伤的主要原因。糖尿病前期和DR临床前期患者作为罹患DR的高危人群,在该阶段可发现视网膜神经元形态功能及视网膜微小血管的改变。视网膜及神经纤维层厚度的变化可部分反映视网膜神经元结构改变;色觉、对比敏感度、视野及视觉电生理等变化可反映视网膜神经元功能改变。随着光学相关断层扫描血管成像技术的发展,临床可以检测出DR之前视网膜微血管的改变。此外,许多生物标志物也可以预测和评估DR。由于目前还没有方法可以阻止DR的发生与进展,临床可以通过观察以上视网膜的改变更为及时地发现DR,以降低其患病率,最大限度地减少DR带来的视力损伤。
Diabetes retinopathy (DR) is the main cause of visual impairment in the working population worldwide. Patients with pre-diabetes and pre-clinic diabetic retinopathy are regarded as in high risk group of DR. The changes in morphology and function of renal neurons and retinal micro-vessels can be found in these patients at this stage. The changes of retinal nerve structure can be partly reflected by changes in the thickness of retina and nerve fiber layer. The changes in function of retinal neurons can be reflected by changes in color vision, contrast sensitivity, visual field and visual electrophysiology.With the development of optical coherence tomography angiography, changes in retinal micro-vessels can be observed prior to clinical detection of DR. In addition, many biomarker can also predict and evaluate DR. Since there is no way to prevent the occurrence and progress of DR at present, more attention should be paid in DR by observing the changes inthe retina mentioned above timely, to reduce its incidence and minimize the visual damage caused by DR.
百年校庆

Müller 细胞介导的 IL-17 信号通路与糖尿病视网膜病变之间关系的研究进展

Research progress on the relationship between Müller cell-mediated IL-17 signaling pathway and diabetic retinopathy

:512-519
 
糖尿病视网膜病变(diabetes retinopathy, DR)是糖尿病常见的眼部并发症,其病理过程复杂,涉及多种细胞及炎症因子。Müller细胞作为视网膜主要支持细胞,在DR中不仅产生白介素-17(interleukin-17, IL-17),还作为其主要靶点发挥作用,通过谷氨酸代谢异常、血管内皮生长因子(vascular endothelial growth factor, VEGF)分泌增加及调控参与DR的病理过程,加重炎症反应。IL-17主要由辅助性T细胞17(T helper cell 17, Th17)分泌,通过促进多种炎症介质(如细胞因子、趋化因子和金属蛋白酶)的分泌,增强炎症反应,导致视网膜微血管损害和神经元凋亡,促进DR的发展。高糖环境下,Müller细胞功能受损,IL-17进一步加剧其功能障碍形成恶性循环。研究表明,阻断IL-17及核因子-κB激活剂1(Nuclear factor-kappa B activator 1, Act1)/肿瘤坏死因子受体关联因子6(tumor necrosis factor receptor associated factor 6, TRAF6)/核因子-κB(Nuclear factor-kappa B, NF-κB)信号通路可减轻DR的病理改变,为DR的治疗提供了新的思路。因此,深入研究IL-17与Müller细胞在DR中的相互作用机制,对于研究该疾病的发病机制及开发精准有效的治疗策略具有重要意义。
Diabetes retinopathy (DR) is a common ocular complication of diabetes, characterized by a complex pathological process involving multiple cells and inflammatory factors. Müller cells, as the primary supporting cells of the retina, not only produce interleukin-17 (IL-17) but also serve as a primary target in DR. They participate in the pathological process of DR by contributing to abnormal glutamate metabolism, increased secretion of vascular endothelial growth factor (VEGF), and regulatory functions, thereby exacerbating the inflammatory response. IL-17 is primarily secreted by T helper cell 17 (Th17) cells and enhances the inflammatory response by promoting the secretion of various inflammatory mediators (such as cytokines, chemokines, and metalloproteinases), leading to retinal microvascular damage and neuronal apoptosis, which accelerates the progression of DR. In a high-glucose environment, Müller cell function is impaired, and IL-17 further exacerbates this dysfunction, creating a vicious cycle. Studies have shown that blocking the IL-17 and Act1/TRAF6/NF-κB signaling pathways can mitigate the pathological changes associated with DR, providing new insights for the treatment of this disease. Therefore, conducting in-depth research on the interaction mechanism between IL-17 and Müller cells in DR is of great significance for exploring the pathogenesis of this disease and developing precise and effective treatment strategies.
综述

胆固醇代谢异常与糖尿病视网膜病变的关系探究

Study on the relationship between abnormal cholesterol metabolism and diabetic retinopathy

:617-623
 
糖尿病视网膜病变是最为常见的糖尿病微血管并发症,主要由糖尿病引起的机体代谢紊乱导致。而然在临床工作中发现,部分患者通过单纯控制血糖以延缓糖尿病视网膜病变进展,所取得效果不甚理想,一些其他因素对于糖尿病视网膜病变的发生、发展,也起到不可忽视的作用。研究表明,在并发高脂血症的糖尿病视网膜病变患者中,胆固醇代谢异常是诱发视网膜病变的主要原因之一。胆固醇代谢异常通过减弱肝脏X受体,导致胆固醇在视网膜上不断积累,降低视网膜血管内皮功能,从而造成视网膜缺血、缺氧环境的形成,又可通过增加炎症因子和细胞黏附分子-1的表达,使原本病态的糖尿病视网膜血管变得更加脆弱,该文总结了糖尿病视网膜病变的病理因素,对比分析当前糖尿病视网膜病变的主要治疗手段,通过分析胆固醇逆向转运(cholesterol reverse transport,RCT)途径转运对糖尿病视网膜病变发生、发展的影响,发现降低高血脂可提高糖尿病视网膜病变的治愈率,这将为糖尿病视网膜病变的临床防治工作提供新思路。
Diabetic retinopathy is the most common diabetic microvascular complication, which is mainly caused by metabolic disorders caused by diabetes. However, in clinical work, it is found that some patients do not achieve satisfactory results in delaying the progress of diabetic retinopathy by simply controlling blood sugar, and some other factors contribute to the occurrence and development of diabetic retinopathy. Also played a role that can not be ignored. Studies have shown that abnormal cholesterol metabolism is one of the main causes of retinopathy in diabetic retinopathy patients with hyperlipidemia. Abnormal cholesterol metabolism leads to the accumulation of cholesterol in the retina and the decrease of retinal vascular endothelial function by weakening the X receptor in the liver, resulting in the formation of retinal ischemia and hypoxia environment. it can also increase the expression of inflammatory cytokines and cell adhesion molecule-1 to make the originally morbid retinal vessels more fragile. This paper summarizes the pathological factors of diabetic retinopathy. By comparing and analyzing the main treatment methods of diabetic retinopathy at present, and by analyzing the influence of cholesterol reverse transport (cholesterolreversetransport,RCT) pathway on the occurrence and development of diabetic retinopathy, it is found that reducing hyperlipidemia can improve the cure rate of diabetic retinopathy, which will provide new ideas for the clinical prevention and treatment of diabetic retinopathy.
综述

糖尿病视网膜病变的全科医学管理

General practice management of diabetic retinopathy

:350-359
 
糖尿病视网膜病变是糖尿病引起的微血管病变之一,是不可逆性致盲的眼病。根据其病程可分为根据其病程可分为非增殖期和增殖期,其中还包括糖尿病性黄斑水肿。全科医师需要检测量裸眼视力、矫正视力和眼压,通过裂隙灯显微镜评估眼前节以及眼底检查来评估眼部整体情况。控制血糖、血压、血脂对改善预后很重要。需要重视餐前、餐后血糖,糖化血红蛋白和代谢记忆,一线降血压药物包括血管紧张素转化酶抑制剂和血管紧张素Ⅱ受体阻断剂,调脂药物首选他汀类,而非诺贝特有额外的视网膜保护作用。干预生活方式,宣教,早期发现也同样重要。全科医师需要进行眼底筛查和评分,及时转诊至眼科治疗。眼科治疗包括全视网膜激光光凝术、经平坦部玻璃体切除术、玻璃体抗血管内皮生长因子药物注射术。
Diabetic retinopathy is one of the microvascular diseases caused by diabetes, it is an irreversible blindness eye disease. According to its course, it can be divided into non-proliferative diabetic retinopathy and proliferative diabetic retinopathy, including diabetic macular edema. Te general practitioner needs to measure the uncorrected visual acuity, corrected visual acuity intraocular pressure, use the slit lamp microscope to exam the anterior segment and fundus to evaluate the overall condition of the eye. Controlling blood glucose, blood pressure and blood lipid is very important to improve the prognosis. Attach importance to pre- and postprandial blood glucose, glycosylated hemoglobin and metabolic memory should be carried out. The first-line antihypertensive drugs are angiotensin converting enzyme inhibitors and angiotensin II receptor blockers. Statins are the first choice for lipid-lowering drugs, fenofibrate has additional protective efect of retinal. Intervention in lifestyle, education and early detection are is important. Te general practitioner needs to perform fundus screening and scoring, timely refer to ophthalmology department for treatment. Ophthalmic treatment includes panretinal laser photocoagulation, pars plana vitrectomy, and intravitreal injection of anti-vascular endothelial growth factor drugs.
眼底影像专栏

中心性浆液性脉络膜视网膜病变的SS-OCT及SS-OCTA的应用及研究进展

Application and progress of swept source optical coherence tomography in choroid-related diseases

:464-470
 
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 it’s 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 has been explored.
眼底影像专栏

急性黄斑神经视网膜病变中视网膜前巨噬细胞样细胞和视网膜脉络膜血流变化

Characterization of epiretinalmacrophage-like cells and retinochoroidal blood flow in acute macular neuroretinopathy

:454-463
 

目的:分析视网膜前巨噬细胞样细胞(epiretinal macrophage-like cellseMLC和视网膜脉络膜血流在急性黄斑神经视网膜病变(acute macular neuroretinopathyAMN)患眼的临床特征。方法回顾性分析202212—20235月在中山大学中山眼科中心就诊的病程2周内的AMN患者2137眼)及年龄匹配的健康对照组3338眼)的临床资料通过黄斑区内界膜上μmeface 光学相干断层扫描(optical coherence tomographyOCT)分层信息eMLC进行半自动分析提取和定量,同时测量OCT血管成像(optical coherence tomography angiographyOCTA6 mm² x 6 mm²的黄斑区域内视网膜脉络膜血流参数进行分析对比。结果 AMN黄斑区eMLC数量329.78±77.38)个,密度为(9.16±2.15/mm2,均较对照组(202.63±41.72、(5.63±1.16/mm2增加P0.001)。AMN组浅层和深层视网膜血流密度分别为33.00±6.49)(32.59±7.41%,均较对照组(36.18±5.63)(37.08±5.65%减少(P0.05。视网膜全层中心凹无血管区(foveal avascular zoneFAZ面积、视网膜全层血流密度、脉络膜毛细血管和脉络膜大中血管血流密度在两组间比较差异无统计学意义(P0.05)。浅层及深层视网膜血流密度和FAZ面积对eMLC密度无影响(P0.05)。13AMN患者(231个月时的随访资料显示:AMN组末次随访时eMLC数量248.70±59.88)个、密度为6.91±1.66)个/mm2初次就诊时(307.87±82.98和(8.55±2.30)个/mm2减少(P0.001,但仍高于同期对照组(176.58±27.89和(4.91±0.77/mm2P0.001)。视网膜和脉络膜血流参数较初次就诊时比较差异无统计学意义(P0.05)。结论AMN患眼中eMLC异常增多和聚集,同时存在轻度的视网膜血流密度下降,但无脉络膜血流参数变化,且eMLC变化与AMN病程相关但与视网膜血流变化无关,提示eMLC所代表的炎症可能独立参与了AMN的发生

Objective: To investigate the clinical characteristics of epiretinal macrophage-like cells (eMLC) and retinochoroidal blood flow in eyes affected by acute macular neuroretinopathy (AMN). Methods: This retrospective case series study included 21 (37 eyes) patients diagnosed with AMN and 28 (33 eyes) healthy age-matched subjects. A 3 mm En-face optical coherence tomography (OCT) slab on the inner limiting membrane of the macular region was used to visualize and binarize the MLCs. The MLCs were binarized and quantified using a semiautomated method. Optical coherence tomography angiography (OCTA) was used to evaluate the perfusion status and obtain the structural data of macular within a 6 x 6 mm² macular region. Results: The number and density of macular eMLC in AMN eyes were significantly increased in comparison to control eyes: 329.78±77.38 vs. 202.63±41.72, (P0.001) and (9.16±2.15) cells/mm2 vs. (5.63±1.16) cells/mm2 (P0.001). In the macular region, both superficial and deep retinal vessel densities were significantly lower in the AMN eyes than in the control eyes: 33.00±6.49 vs. 36.18±5.63 (P=0.040); 32.59±7.41 vs. 37.08±5.65 (P=0.008). There were no significant differences in the vessel densities and foveal avascular zone (FAZ) area of full retina and choroidal vessel density between the two groups (P0.05). The eMLC density was not associated with the superficial and deep retinal FAZ area and vessel densities (all P0.05). At the one-month follow-up data of 13 patients (23 eyes), the number and density of macular eMLC were significantly lower in comparison to the initial visit: 248.70±59.88 vs. 307.87±82.98, P0.001 and (6.91±1.66) cells/mm2 vs. (8.55±2.30) cells/mm2 (P0.001). However, the number and density of macular eMLC are still noticeably higher than those of the control group during the same timeframe: 248.70±59.88 vs. 176.58±27.89 (P0.001) and (6.91±1.66) cells/mm2 vs. (4.91±0.77) cells/mm2 (P0.001). There was no significant difference in the vessel density of retina and choroidal during the follow-up (P0.05). Conclusions: The aggregation and activation of eMLC and a mild decrease in retinal blood flow density are observed in AMN, yet there is no corresponding shift in choroidal vessel densityThe changes of eMLC are linked to the course of AMN, but they are not related to retinal vessel density. The inflammatory response represented by eMLC might independently contribute to the pathogenesis and progression of AMN.

眼底影像专栏

基于机器学习的代谢组学探索 2 型糖尿病及糖尿病视网膜病变进展潜在生物标志物

Metabolomic integration with machine learning identifies potential biomarkers for type 2 diabetes mellitus and diabetic retinopathy progression

:303-314
 
目的:利用超高效液相色谱串联四极杆-静电场轨道阱高分辨质谱(ultra-high per formance liquid chromatography tandem quadrupole-electrostatic field orbitrap high resolution mass spectrometer, UHPLC- HRMS)代谢组学技术结合机器学习识别与糖尿病视网膜病变(diabetic retinopathy, DR)进展过程中的房水代谢差异,以寻找DR进展相关生物标志物。方法:本研究共纳入78例2型糖尿病(type 2 diabetes mellitus, T2DM)患者以及30名年龄性别匹配健康对照人群。使用UHPLC- HRMS检测所有患者及对照人群房水中的代谢物丰度,结合机器学习筛选T2DM和DR进展相关代谢物标志物并建立预测模型。结果:在校正混杂因素后,与健康人群对比1, 5-脱水山梨醇、硫酸十四烷基酯和N,N,N-三甲基-5-氨基戊酸在T2DM患者中表现出显著差异(均< 0.05);而N-乙酰色氨酸、亚油酰胺、油酰胺、棕榈酰胺、戊酸(游离脂肪酸(5:0)和琥珀酸与DR进展显著相关(均P < 0.001)。代谢通路分析表明,“缬氨酸、亮氨酸和异亮氨酸的生物合成”“精氨酸的生物合成”和“半胱氨酸及蛋氨酸代谢”是T2DM差异代谢途径。基于生物标志物的随机森林预测模型显示,差异代谢产物对T2DM和DR进展的预测准确率分别为81.3%和74%。结论:代谢组学结合机器学习方法有效揭示了T2DM及与DR进展相关的代谢特征,亚油酰胺和油酰胺有望成为DR进展的生物标志物,为DR的诊断和个体化治疗提供了新的可能性。
Objective: To identify aqueous humor metabolic profiles associated with the progression of type 2 diabetes mellitus (T2DM) and diabetic retinopathy (DR), aiming to discover potential biomarkers for DR progression. Ultra-high performance liquid chromatography tandem quadrupole-electrostatic field orbitrap high-resolution mass spectrometry (UHPLC-HRMS) will be utilized in conjunction with machine learning (ML) for comprehensive analysis. Methods: A total of 78 patients with T2DM and 30 age- and gender-matched healthy controls were included. UHPLC-HRMS was used to identify metabolites in the aqueous humor of all participants. ML was employed to screen for metabolites associated with T2DM and DR progression, and predictive models were established. Results: After adjusting for covariates, 1,5-anhydroglucitol, tetradecyl sulfate, and n,n,n-trimethyl-5-aminovaleric acid identified as significant indicators for T2DM compared to controls (all < 0.05). N-acetyltryptophan, linoleamide, oleamide, palmitic amide, valeric acid(FFA(5:0), and succinic acid emerged as predictors for DR progression (all P < 0.001). Metabolic pathway analysis revealed that "valine, leucine and isoleucine biosynthesis", "arginine biosynthesis," and "cysteine and methionine metabolism" were the most enriched pathways for T2DM. Predictive models achieved R² values of 81.3%, and 74% for T2DM and DR progression, respectively. Conclusions: Metabolomic combined with ML effectively uncovered metabolic characteristics associated with T2DM and DR progression. Linoleamide and oleamide represent promising potential biomarkers for DR progression, offering new opportunities for diagnosis and personalized treatment of DR.
眼底影像专栏

慢性中心性浆液性脉络膜视网膜病变的多模式影像研究进展

Research progress of multimodal imaging in chronic central serous chorioretinopathy

:261-271
 
慢性中心性浆液性脉络膜视网膜病变(cCSC)以广泛的脉络膜视网膜异常为特征,包括脉络膜血管扩张及其引发的弥漫性视网膜色素上皮病变和浆液性视网膜脱离,常累及黄斑区,引起视功能损害。传统观点认为其可能由急性CSC演变而来,但近期研究显示两者在临床上存在明显差异。其病情反复、迁延,预后较差。随着光学相干断层扫描血管造影(OCTA)、超广角成像和en face重建成像等新多模式影像(MMI)技术的出现和人工智能及机器学习的发展,更多有意义的cCSC影像学特征不断出现。文章详细介绍了cCSC在眼底成像、眼底自发荧光(FAF)、光学相干断层扫描(OCT)、眼底荧光素血管造影(FFA)、吲哚菁绿血管造影和OCTA等影像技术中的表现,并探讨了人工智能在识别CSC分类及其OCT 生物标志物等方面的应用。不同影像技术在cCSC的诊断和研究中各有优势,如FAF可能是评估疾病进展及变化的有效手段,OCT可更直观地观察视网膜结构的改变,FFA是识别渗漏点的重要检查手段,而OCTA可能是评估脉络膜微循环的的最佳手段等。这些MMI研究进展为深入了解cCSC的病理生理机制及临床特征提供了重要线索,有助于提高诊断的准确性和效率,改善患者的预后和生活质量。
Chronic central serous chorioretinopathy (cCSC) is characterized by extensive retinochoroidal abnormalities. This includes difuse retinal pigment epitheliopathy and serous retinal detachment associated with choroidal vasodilatation, ofen involving the macula and cause visual impairment. It was originally considered that it might evolve from acute CSC, but recent studies have shown significant clinical differences between the two. It tends to recur, be prolonged, and have an unfavorable prognosis. With the advent of new multimodal imaging (MMI) techniques such as optical coherence tomography angiography (OCTA), ultra-wide-feld imaging, and en face reconstruction imaging, along with the advancement of artificial intelligence and machine learning, more significant cCSC imaging characteristics have been constantly emerging. Tis article provides a comprehensive overview of cCSC’s imaging features across various modalities, including fundus photography, fundus autofluorescence (FAF), optical coherence tomography (OCT), fuorescein angiography (FFA), indocyanine green angiography, and OCTA. It also explores the application of artifcial intelligence in identifying CSC classifications and OCT biomarkers. Different imaging techniques have their own advantages in the diagnosis and study of cCSC, such as FAF being an efective means to assess disease progression and changes, OCT providing a more intuitive observation of retinal structural changes, FFA being an important tool for identifying leakage points, and OCTA possibly being the best means to assess choroidal microcirculation. Tese MMI research advancements ofer crucial insights for clinicians, aiding in more accurate diagnosis and efective treatment, thereby potentially improving patient outcomes and quality of life.
综述

血糖变异性对糖尿病视网膜病变的影响及研究进展

The impact of blood glucose variability on diabetic retinopathy

:189-195
 
糖尿病视网膜病变(diabetic retinopathy, DR)作为糖尿病的一种常见并发症是导致工作年龄人群失明的主要原因。血糖变异性(glycemic variability, GV)指血糖波动的程度。最新研究表明,GV与糖尿病患者的代谢状况和微血管病变密切相关。该文综述了GV对DR的影响及其研究进展。GV是指血糖水平在高点和低点之间波动的不稳定状态,分为长期GV和短期GV。长期GV主要通过空腹血糖(fasting plasma glucose, FPG)、餐后血糖(postprandial plasma glucose, PPG)和糖化血红蛋白(glycated hemoglobin, HbA1c)评估,短期GV则通过血糖标准差(standard deviation, SD)、变异系数(coefficient of variation, CV)、低血糖指数(low blood glucose index, LBGI)等指标量化。研究表明,GV是糖尿病大管和微血管并发症的重要风险预测因子,与冠状动脉综合征、心肌梗死、脑卒中、糖尿病肾病、周围神经病变等密切相关。在DR方面,GV可能是其进展的风险因素,高GV会加剧氧化应激、炎症反应、内皮功能障碍和新生血管生成,从而促进DR的发展。治疗策略包括动态血糖监测系统、药物干预(如基础胰岛素、阿格列汀等)、合理饮食和运动等,这些方法可改善GV,降低并发症风险,提高患者预后和生活质量。

Diabetic retinopathy (DR) is a common complication of diabetes and is a leading cause of blindness in the working-age population. Glycemic variability (GV) refers to the degree of fluctuation in blood glucose levels. Recent studies have shown that GV is closely related to the metabolic status and microvascular complications in patients with diabetes. This article reviews the impact of glycemic variability (GV) on diabetic retinopathy (DR) and the latest research progress.GV is defined as the unstable state of blood glucose levels fluctuating between highs and lows, which is categorized into long-term GV and short-term GV. Long-term GV is mainly assessed through fasting plasma glucose (FPG), postprandial plasma glucose (PPG), and glycated hemoglobin (HbA1c). Short-term GV is quantified by indicators such as the standard deviation of blood glucose (SD), coefficient of variation (CV), and low blood glucose index (LBGI).Studies have shown that GV is an important risk predictor for both macrovascular and microvascular complications in diabetic patients, being closely associated with conditions such as coronary artery syndrome, myocardial infarction, stroke, diabetic nephropathy, and peripheral neuropathy. Regarding DR, GV is likely a risk factor for its progression. High GV can exacerbate oxidative stress, inflammatory responses, endothelial dysfunction, and neovascularization, thereby promoting the development of DR.Treatment strategies include continuous glucose monitoring systems, pharmacological interventions (such as basal insulin, alogliptin, etc.), as well as proper diet and exercise. These approaches can improve GV, reduce the risk of complications, and enhance patients' prognosis and quality of life.
其他期刊
  • 眼科学报

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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  • Eye Science

    主管:中华人民共和国教育部
    主办:中山大学
    承办:中山大学中山眼科中心
    主编:林浩添
    主管:中华人民共和国教育部
    主办:中山大学
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