2025年9月 第40卷 第9期

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
光启百年 : 纪念陈耀真教授专栏

广州双生子眼病研究:对近视防控的启示

The Guangzhou Twin Eye Study: what we learn in the context of myopia control

:675-682
 
广州双生子眼病研究(The Guangzhou Twin Eye Study, GTES)是一项针对中国南方双胞胎人群的长期队列研究,通过15年纵向随访数据,系统解析了遗传与环境因素对近视的影响。研究证实,眼轴长度与视网膜周边屈光度具有高度遗传性,且教育负担的加重是近视进展的核心环境驱动因素。GTES基于1291对双生子数据建立了近视预测模型,为近视早期筛查与干预提供科学依据。此外,该研究还探讨了遗传因素和环境因素对近视发展的共同影响。本文基于GTES研究的主要结论,以期为公共卫生策略和临床实践提供更有力的科学依据,以遏制全球近视流行的趋势。
The Guangzhou Twin Eye Study (GTES) is a cohort of twins living in South China that has been longitudinally followed for more than 15 years. This study has extensively investigated the heritability of myopia and the influence of environmental factors, producing significant and far reaching impacts. GTES has found a high heritability of axial length and peripheral refraction, the significant role of education in myopia progression, and established a prediction model for myopia onset and progression. The study has also explored the impact of both genetic and environmental factors on myopia development. By reviewing the major findings on myopia from the GTES, we hope to better inform public health strategies and clinical practices aimed at mitigating the global myopia epidemic.

血管内皮生长因子中和蛋白治疗NVAMD:脉络膜新生血管消退先于黄斑萎缩

Regression of choroidal neovascularization often precedes macular atrophy in eyes with neovascular age-related macular degeneration treated with vascular endothelial growth factor neutralizing proteins

:683-699
 
目的:识别新生血管性年龄相关性黄斑变性(neovascular age-related macular degeneration,NVAMD)患者接受抗血管内皮生长因子(vascular endothelial growth factor,VEGF)药物治疗后出现的黄斑萎缩事件,并评估其治疗前的眼部解剖结构变化。方法:回顾 2014 全年期间由采用抗 VEGF 药物治疗的所有 NVAMD 患者,这些患者的随访时间均超过 12 个月,并评估了从首次治疗(通常在 2014 年前)至 2018 年 6 月最后一次随访期间的所有谱域光学相干断层扫描(spectral domain-optical coherence tomography, SD-OCT)图像。结果:在既定的研究流程中,共识别出 278 例 NVAMD 患者的 342 眼,其中 47 眼发生了黄斑萎缩。从治疗开始到黄斑萎缩出现的中位时间为 29.6 个月(四分位距:17.7-43.4)。在发生萎缩的区域中,发现了三种黄斑结构改变(部分眼睛存在不止一种改变):在 25 眼中观察到血管化色素上皮脱离(pigment epithelial detachment,PED)的塌陷和脉络膜新生血管(choroidal neovascularization,CNV)的消退;在 15 眼中观察到视网膜下高反射物质和(或)视网膜下纤维化的形成;在 13 眼中观察到黄斑萎缩与大玻璃膜疣及色素改变相关联,呈现出通常称为地图状萎缩的典型模式。结论:这些数据表明,在某些情况下,CNV 可能补偿脉络膜的缺血状态,而 CNV 的消退则可能使 RPE 细胞和光感受器暴露于缺血性损伤和萎缩的风险之中。
Background/Aims: To identify incident macular atrophy and evaluate antecedent anatomic alterations in eyes with neovascular age-related macular degeneration (NVAMD) that were treated with anti-vascular endothelial growth factor (anti-VEGF) agents. Methods: All patients treated with anti-VEGF agents for NVAMD by one of the authors during the 2014 calendar year who had follow up ≥ 12 months had evaluation of all SD-OCT scans from first treatment (usually prior to 2014) to last follow up through June 2018.  Results: The ascertainment procedure identified 342 eyes of 278 patients with NVAMD among which 47 developed macular atrophy. The median time from treatment initiation to development of macular atrophy was 29.6 (interquartile range, 17.7 - 43.4) months. Three macular alterations were identified in areas that developed atrophy (some eyes had more than one); collapse of a vascularized pigment epithelial detachment (PED) and regression of choroidal neovascularization (CNV) in 25 eyes, development of subretinal hyper-reflective material and/or subretinal fibrosis in 15 eyes, or atrophy occurring in association with large drusen and pigmentary changes resulting in an arc of atrophy in a pattern typically referred to as geographic atrophy in 13 eyes. Conclusions: These data suggest that in some instances CNV may compensate for choroidal ischemia and the loss of CNV may expose retinal pigmented epithelial cells and photoreceptors to ischemic damage and atrophy.
泪器病专栏

14例眼眶泪腺导管囊肿的临床特征及手术治疗

Clinical characteristics and surgical management of 14 cases with orbital lacrimal duct cysts

:700-707
 
目的:探讨眼眶泪腺导管囊肿的临床特征及手术治疗方式,提高对该疾病诊疗的认识。方法:回顾性分析天津医科大学第二医院1991年1月—2023年12月经手术后病理证实的14例眼眶泪腺导管囊肿患者的临床资料。结果:14例患者中,男性9例,女性5例;年龄8个月~59岁,平均年龄为26.5岁;均为单眼,其中左眼9例,右眼5例;多以发现眼眶肿物或眼睑肿胀隆起就诊。B超/彩色多普勒超声或CT均提示囊性占位性病变。所有患者均接受了囊肿切除术,全身麻醉手术4例,局部麻醉手术10例;其中前路皮肤切口6例,结膜切口8例,辅助外眦切开3例。术中6例囊肿破裂,囊腔内注入医用透明质酸钠凝胶,辅助完整摘除囊壁。术后病理均提示泪腺导管囊肿,其中睑叶泪腺导管囊肿4例,眶叶泪腺导管囊肿4例,副泪腺导管囊肿5例,异位泪腺导管囊肿1例。术后复查未见并发症。结论:泪腺导管囊肿是临床较少见的疾病,可以发生在眼部的任何部位,结合典型的临床及影像学表现,主泪腺导管囊肿可基本明确诊断,但仍需与上皮/结膜包含性囊肿及皮样囊肿等鉴别,最终需病理确诊。手术完整切除囊肿是治疗该病的主要方法,切除不完全,有复发可能;术中辅助应用医用透明质酸钠凝胶囊内注射有助于囊肿完整摘除。
Abstract Objective:To explore the clinical characteristics and surgical treatment for lacrimal duct cyst, aiming to enhance the diagnosis and therapeutic outcomes of this disease. Method: We conducted a retrospective analysis of the clinical data from 14 patients with lacrimal duct cysts all of which were confirmed by postoperative pathology. These patients were treated at our hospital from January 1991 to December 2023. Results: Among the 14 patients,  there were 9 male and 5 females, with age ranging from 8 months to 59 years (mean: 26.5 years). All cases involved unilateral involvement, with 9 affecting the left eye and 5 affecting the right eye. The majority of patients sought medical care due to the presence of an orbital mass or eyelid swelling and protrusion. Imaging studies, including B-ultrasound, color Doppler ultrasound, or CT scans, consistently revealed cystic space-occupying lesions. All patients underwent cystectomy, with 4 cases performed under general anesthesia and 10 cases under local anesthesia.Surgical approahces included anterior skin incision in 6 cases, conjunctival incision in 8 cases, and  auxiliary lateral canthotomy in 3 cases involving. During surgery, cyst rupture occurred in 6 cases, necessitating the injection of medical sodium hyaluronate gel into the cyst cavity to facilitate the complete removal of the cyst wall. Postoperative pathological analysis confirmed the presence of lacrimal gland duct cysts, which were further classified as follows: 4 cases of eyelid lobe lacrimal gland duct cysts, 4 cases of orbital lobe lacrimal gland duct cysts, 5 cases of accessory lacrimal gland duct cysts, and 1 case of ectopic lacrimal gland duct cyst. No postoperative complications were observed in any the patients. Conclusions: Lacrimal duct cysts are relatively uncommon in clinical practice and can arise in any part of the eye. Given their typical clinical and imaging features, a primary lacrimal duct cyst can generally be diagnosed with reasonable degree of certainty. However, it is still necessary to be differentiated it from epithelial/conjunctival inclusion cysts and dermoid cysts, and other similar conditions., with the final diagnosis relying on pathological confirmation. Complete surgical resection of the cyst is the primary treatment approach for this disease, as incomplete resection may result in recurrence. Intra-capsular injection of medical sodium hyaluronate gel during surgery can aid in the complete remval of the cyst.

以急性泪囊炎为首发症状的慢性淋巴细胞白血病:病例报告及文献综述

Chronic Lymphocytic Leukemia with Acute Dacryocystitis as the Initial Symptom: A Case Report and Review of Literature

:708-715
 
急性泪囊炎常由慢性泪囊炎急性发作引发,典型症状为流泪,异常分泌物增多等慢性泪囊炎症状,继发泪囊区红肿热痛等急性泪囊炎表现,多为单眼发病。慢性淋巴细胞白血病(chronic lymphocytic leukemia, CLL)属于原发于造血组织的恶性血液疾病,从表面看这两种疾病在病理生理方面没有直接联系。本研究报告了1例以急性泪囊炎作为首发症状的CLL患者,表现为双眼急性泪囊炎体征,经全身检查确诊为CLL。同时,通过回顾相关文献,发现有类似报道,但一例为小儿白血病患者以急性泪囊炎首发体征出现,一例急性泪囊炎患者泪囊摘除后经病理活检确诊为CLL,目前尚未见关于CLL保守治疗后急性泪囊炎明显缓解的报道。该病的发生可能与泪道引流相关淋巴组织(lacrimal drainage-associated lymphoid tissue, LDALT)改变有关,它作为黏膜免疫系统的一部分,可引导CLL细胞向LDALT迁移并定植,破坏局部的免疫微环境,干扰泪道的免疫平衡,抑制正常免疫细胞的功能,促进鼻泪管淋巴细胞异常增生等,引发泪道系统引流不畅。同时,此外,CLL所致的全身免疫抑制状态,也使得机体整体抗感染能力降低,增加了泪囊感染的风险,最终导致急性泪囊炎的发生和发展。通过对该病例的潜在发病机制进行综合分析,并探讨其为临床诊疗带来的启示。
Acute dacryocystitis often results from the acute attack exacerbation of chronic dacryocystitis. Typical symptoms include those of chronic dacryocystitis, such as persistent tearing, increased abnormal secretions, as well secondary manifestations of acute dacryocystitis like redness, swelling, heat and pain in the lacrimal sac area, which are predominantly unilateral. Chronic lymphocytic leukemia (CLL) is a malignant blood disorder originating from hematopoietic tissue. On the surface, these two diseases do not appear to be directly related in terms of pathophysiology. This study reported a case of CLL presenting with acute dacryocystitis as the initial symptom. The patient exhibited signs of acute dacryocystitis in both eyes, and was subsequently diagnosed with CLL following a systemic examination. Meanwhile, a review of the relevant literature revealed similar reports. However, in one instance, acute dacryocystitis in children with leukemia appeared as the first sign of acute leukemia itself, while in another, acute dacryocystitis was diagnosed as CLL by pathological biopsy after dacryocystectomy. At present, there have been no report of significant remission of acute dacryocystitis following conservative treatment for CLL. The occurrence of this condition may be related to the changes in lacrimal drainage-associated lymphoid tissue (LDALT). As a part of the mucosal immune system, LDALT can guide CLL cells to migrate and colonize within it, thereby disrupting the local immune microenvironment, interfering with the immune balance of the lacrimal passage, inhibiting the function of normal immune cells, promoting abnormal lymphocyte proliferation in the nasolacrimal duct, and ultimately leading to impaired drainage of the lacrimal passage system. Additionally, the systemic immunosuppressive state induced by CLL reduces the body’s overall anti-infective capacity, increasing the risk of dacryocystal infection and ultimately contributing to the onset and progression of acute dacryocystitis. Through a comprehensive analysis of the potential pathogenesis of this case, we aim to explore its implications for clinical diagnosis and treatment.

分子视角下的IgG4相关眼病:从自身免疫到纤维化

A molecular perspective on IgG4-ROD: from autoimmunity to fibrosis

:716-723
 
IgG4相关性眼病(immunoglobulin G4-related ophthalmic disease, IgG4-ROD)是一种与IgG4阳性浆细胞浸润和血清IgG4水平升高相关的系统性疾病。该病的眼部表现包括泪腺、眼眶脂肪、眶下神经、眼外肌和眼睑的受累,且常伴有炎症和纤维化过程。在分子水平上,IgG4-ROD涉及多种免疫细胞和细胞因子的相互作用,包括辅助性T细胞1(T helper cell 1, Th1)、辅助性T细胞2(T helper cell 2, Th2)、调节性T细胞 (regulatory T cells, Tregs)和滤泡辅助性T细胞(follicular helper T cell, Tfh),以及由它们分泌的白细胞介素4(interleukin 4, IL-4)、白细胞介素13(interleukin 13, IL-13)和转化生长因子β(transforming growth factor-β,  TGF-β)等。这些分子通过促进B细胞活化和IgG4的产生,以及纤维化过程的发生,共同参与了IgG4-ROD的发病机制。诊断依赖于组织病理学特征,治疗通常包括糖皮质激素和免疫抑制剂,旨在控制免疫介导的炎症和纤维化,减轻症状并防止器官损伤。随着对IgG4-ROD在分子层面发病机制认识的深入,治疗策略将不断优化,进而为患者提供更为精准和有效的治疗方案,从而改善患者预后,提高患者生活质量。本文基于现有研究,总结并阐述了与IgG4-ROD致病有关的关键分子及信号通路,从分子视角对IgG4-ROD的自身免疫、纤维化及二者之间的联系与转变进行综述。
Immunoglobulin G4-related ophthalmic disease (IgG4-ROD) is a systemic disorder characterized by the infiltration of IgG4-positive plasma cells and elevated serum IgG4 levels. The ocular symptoms of this disease can affect multiple structures, including the lacrimal gland, orbital fat, infraorbital nerves, extraocular muscles, and eyelids.These manifestations are often accompanied by inflammatory and fibrotic processes. At the molecular level, IgG4-ROD is linked to the interaction of various immune cells and cytokines. These include T helper cell 1 (Th1), T helper cell 2 (Th2), regulatory T cells (Tregs), and follicular helper T cells (Tfh), along with cytokines interleukin 4 (IL-4), interleukin 13 (IL-13), and transforming growth factor-β (TGF-β). They promote B cell activation and IgG4 production, and also facilitate the development of fibrosis. Diagnosis of IgG4-ROD is mainly based on histopathological features. Treatment typically involves the use of glucocorticoids and immunosuppressive agents, which aim to control immune-mediated inflammation and fibrosis, alleviate symptoms, and prevent organ damage. As our understanding of the molecular pathogenesis of IgG4-ROD advances, it is anticipated that treatment strategies will be continuously refined. This will enable us to offer patients more precise and effective therapeutic options, ultimately improving prognosis and quality of life. This article provides a summary and clarification of the key molecules and signaling pathways involved in the pathogenesis of IgG4-ROD. It also reviews,   from a molecular perspective, the interplay between autoimmunity and fibrosis, as well as their transformations.
论著

一项基于亚洲及欧洲人群的双样本孟德尔随机化研究:探究大气污染与年龄相关性白内障的关系

A two-sample Mendelian randomization study in Asian and European populations:exploring the relationship between air pollution and age-related cataract

:724-736
 
目的:关于大气污染物是否与年龄相关性白内障有关联的研究有限,以往的研究结果也不一致。本研究旨在评估多种大气污染物与年龄相关性白内障之间的关系。方法:采用双样本孟德尔随机化(Mendelian Randomization, MR)设计,并使用了来自亚洲及欧洲两个人群的独立全基因组关联研究(Genome-Wide Association Study, GWAS)的汇总统计数据。大气污染物数据包括颗粒物2.5(particulate matter2.5, PM2.5)、PM2.5-10、PM10、二氧化氮和氮氧化物。主要分析方法是逆方差加权(inverse variance Weighted, IVW)法,辅以多变量孟德尔随机化分析(multivariable Mendelian randomization, MVMR)校正污染物间混杂效应,并通过敏感性分析验证结果的稳健性。Cochran Q检验法被用来评估各个单核苷酸多态性(single nucleotide polymorphism, SNP)之间是否存在显著的异质性。并采用MR PRESSO方法来识别并排除SNP中的异常值,同时利用MR Egger回归模型评估SNP之间可能存在的多效性,并通过逐一排除每个SNP进行敏感性分析,以确保MR分析结果不受单一SNP的显著影响。结果:关于5种大气污染物特征,亚洲人群结果中,二氧化氮暴露与年龄相关性白内障存在正相关(OR=1.03, 95%CI 1.00~1.06,P=0.026),但在多变量分析中效应方向反转(OR=0.86, 95%CI 0.77~0.97, P=0.013);在欧洲人群中,PM2.5-10与年龄相关性白内障显著相关(OR=1.35, 95%CI 1.12~1.62,P=0.002),且在多变量分析中因果效应依然显著(OR=1.58, 95%CI 1.27~3.70, P=0.03)。敏感性分析支持结果的稳健性,未发现异质性或多效性偏倚。结论:环境中PM2.5-10和二氧化氮与年龄相关性白内障存在复杂因果关系,且因人群而异。亚洲人群中,二氧化氮单变量分析呈正相关,多变量分析效应反转,倾向多变量分析结果,即其降低年龄相关性白内障风险;欧洲人群中,PM2.5-10单、多变量分析均呈正相关,显示其会增加年龄相关性白内障风险。
Objective: Research exploring the association between atmospheric pollutants and age-related cataracts is scarce, and previous studies have yielded inconsistent findings. This study aims to assess the relationship between various atmospheric pollutants and age-related cataracts. Methods: We adopted a two-sample Mendelian randomization (MR) design, using summary statistics from independent genome-wide association studies (GWAS) conducted on Asian and European populations. The atmospheric pollutant considered in this study included PM2.5, PM2.5-10, PM10, nitrogen dioxide, and nitrogen oxides. The primary analysis method was the inverse variance weighted (IVW) approach. Additionally, multivariable MR (MVMR) was used to adjust for confounding effects among pollutants. Sensitivity analyses were conducted to verify the robustness of the results. The Cochran Q test was employed to assess significant heterogeneity among SNPs. The MR PRESSO method was applied to identify and exclude outliers SNPs, while the MR Egger regression model was used to evaluate potential pleiotropy among SNPs. Furthermore, sensitivity analyses were performed by excluding each SNP one by one to ensure that the MR analysis results were not significantly influenced by a single SNP. Results: Among the five atmospheric pollutants studied, we discovered a significant positive correlation between nitrogen dioxide exposure and age-related cataracts in the Asian population (OR=1.03, 95%CI 1.00-1.06, P=0.026). However, the direction of the effect was reversed in the multivariable analysis (OR=0.86, 95%CI 0.77-0.97, P=0.013). In the European population, PM2.5-10 was significantly associated with age-related cataracts (OR=1.35, 95%CI 1.12-1.62, P=0.002), and the causal effect remained significant in the multivariable analysis (OR=1.58, 95%CI 1.27-3.70, P=0.03). Sensitivity analyses supported the robustness of the results, with no evidence of heterogeneity or pleiotropy bias. Conclusions: This study revealed a complex causal relationship between environmental PM2.5-10 and NO₂ and age-related cataracts, which varied across populations. In Asian populations, the univariate analysis of nitrogen dioxide showed a positive correlation, but the effect was reversed in multivariate analysis, leaning towards the multivariate results and indicating a reduced risk of age-related cataracts. In European populations, both univariate and multivariate analyses of PM2.5-10 showed a positive correlation, increasing the risk of age-related cataracts. The study provides genetic evidence for the prevention and control of air pollution and highlights the importance of using multi-pollutant models to assess environmental health effects.

PEI联合房角分离及房角切开治疗中晚期CPACG合并白内障患者的临床观察

Observation of the therapeutic efficacy of phacoemulsification combined with intraocular lens implantation, goniosynechialysis and goniotomy in patients with advanced chronic primary angle-closure glaucoma complicated by cataract

:737-744
 
目的:观察超声乳化白内障吸除人工晶状体植入术(phacoemulsification with intraocular lens implantation, PEI)联合房角分离术(goniosynechialysis, GSL)及房角切开术(goniotomy, GT)治疗中晚期原发性慢性闭角型青光眼(chronic primary angle-closure glaucoma , CPACG)合并白内障的安全性和有效性。方法:采用回顾性病例研究。收集2020年6月至2024年1月在成都市中西医结合医院行PEI联合GSL及GT的中晚期CPACG合并白内障患者94例133眼,观察最佳矫正视力(best corrected visual acuity, BCVA)、眼压、抗青光眼药物使用数量及术后并发症等情况。采用重复测量方差分析、Wilcoxon秩检验进行统计学处理。结果:术后1天,1周,1、3、6个月94例患者133眼的BCVA(logMAR)均较术前有所提升(P<0.05);从术后1天到6个月的所有随访时间点眼压均较术前明显下降(F = 189.79,P<0.001);术后6个月,患者使用的降眼压药物数量明显低于术前 ( = -2.392,P<0.001)。术后1周中31眼(23%)出现角膜水肿,15眼(11%)出现前房积血,均在1周内消退;术后1个月内1眼出现眼压反跳,予以前房穿刺放液等治疗后眼压恢复到正常范围。术后6个月,121眼(91%)手术完全成功,10眼(8%)手术条件成功。结论:PEI联合GSL及GT治疗中晚期CPACG合并白内障可有效地提高视力、降低眼压,且无严重并发症。
Objective: To observe the safety and efficacy of phacoemulsification with intraocular lens implantation (PEI) combined with goniosynechialysis (GSL) and goniotomy (GT) in treating advanced chronic primary angle-closure glaucoma (CPACG) complicated by cataract. Methods: This was a retrospective case series study. We collected data from a total of 94 patients (133 eyes) who had advanced CPACG along with cataract and underwent PEI+GSL+GT at Chengdu Integrated TCM&Western Medicine Hospital between June 2020 and January 2024. We observed the best corrected visual acuity (BCVA), intraocular pressure (IOP), the number of anti-glaucoma drugs used, and postoperative complications. Repeated measures ANOVA and Wilcoxon rank test were used for statistical analysis. Results: The BCVA (logMAR) at 1 day, 1 week, 1, 3, and 6 months after surgery showed significant improvement compared to the pre-surgical values (F = 189.79,< 0.001); The IOP at 1 day, 1 week, 1, 3, and 6 months post-surgery was significantly lower than that pre-surgical IOP (P < 0.001). The number of IOP-lowering drugs used at 6 months after surgery was also significantly reduced compared to the pre-surgical (Z = -2.392, P < 0.001). One week after surgery, corneal edema occurred in 31 eyes (23%) and hyphema in 15 eyes (11%) , both of which resolved spontaneously within 1 week. Within one month after surgery, 1 eye experienced an IOP spike, and the intraocular pressure returned to normal range after treatments such as anterior chamber puncture and drainage. Six months after surgery, the operation was completely successful in 121 eyes (91%), and conditionally successful in 10 eyes (8%), resulting in an overall surgical success rate of 99%. Conclusions: PEI combined with GSL and GT can effectively improve vision and reduce IOP in patients with advanced CPACG complicated by cataract, without causing serious complications.
综述

先天性白内障发生相关表观遗传学研究进展

Advances in epigenetic research on the pathogenesis of congenital cataract

:745-752
 
先天性白内障是晶状体发育异常引起的以晶状体混浊为特征的疾病,导致婴幼儿中重度视力损害,严重影响患儿长期生存质量,给全球带来较大的社会经济负担。目前先天性白内障的发病机制尚未得到很好的阐明,遗传因素虽在其中扮演重要角色,但已知基因突变仅能解释约30%的病例,大多数患儿发病原因仍不明确。晶状体的透明性依赖于晶状体上皮细胞和纤维细胞精密有序的排列,这与受到严格调控的晶状体发育过程密切相关,任何环节异常均可能导致晶状体早期混浊。故阐明调控晶状体发育的分子与细胞机制,是深入探究先天性白内障病因的前提。表观遗传学是在DNA序列不改变的情况下,对控制基因的活性和表达的因素进行研究的学科,包括DNA甲基化、组蛋白修饰、染色质重塑、非编码RNA调控等多种修饰,近年受到生命科学领域研究者较多的关注。在眼发育及眼部各类疾病机制探索中,表观遗传调控已被证实参与多种生理与病理过程。本综述通过总结已发表的与晶状体发育和先天性白内障发病机制相关的表观遗传学研究,尝试汇总与先天性白内障发生发展相关的表观遗传分子及通路,为进一步揭示疾病机制提供理论依据,并为未来的临床诊疗提供新的思路和方法。
Congenital cataract is a disease characterized by lens opacity due to abnormal lens development.This opacity results in moderate to severe visual impairment in infants and young children, significantly impacting their long-term quality of life and imposing a substantial socioeconomic burden globally. The pathogenesis of congenital cataract remains not fully understood. Although genetic factors play a significant role, known gene mutations account for only about 30% of cases, leaving the underlying cause unclear for the majority of affected children. Lens transparency depends on the precise, ordered arrangement of lens epithelial cells and fiber cells, a process that is closely tied to the strictly regulated lens development. Abnormalities at any stage of development may lead to early lens opacity. Therefore, clarifying the molecular and cellular mechanisms that regulate lens development is a prerequisite for investigating the etiology of congenital cataract. Epigenetics is the field of study that focuses on factors controlling gene activity and expression without altering DNA sequences. It encompasses a wide range of modifications including DNA methylation, histone modifications, chromatin remodeling, and non-coding RNA regulation, and has garnered significant attention from researchers in recent years. In the context of ocular development and the mechanisms underlying various eye diseases, epigenetic regulation has been shown to participate in multiple physiological and pathological processes. This review synthesizes published research on epigenetics related to lens development and the pathogenesis of congenital cataract. It aims to summarize the epigenetic molecules and pathways associated with the onset and progression of congenital cataracts, providing a theoretical foundation for further elucidating disease mechanisms and offering new insights and approaches for future clinical diagnosis and treatment.

眼睑基底细胞癌的诊疗新进展

Recent advances in the diagnosis and treatment of eyelid basal cell carcinoma

:753-762
 
眼睑基底细胞癌(basal cell carcinoma of eyelid, BCC)是眼附属器中最为常见的恶性肿瘤,近年来,其全球发病率呈持续上升趋势,且患者发病年龄有明显年轻化的倾向,这不仅增加了疾病的公共卫生负担,也对临床防治策略提出了更高要求。本文综述了眼睑BCC在诊疗领域的最新研究进展。在诊断方面,除传统组织病理学检查外,皮肤镜、反射共聚焦显微镜(reflectance confocal microscope, RCM)和光学相干断层扫描(optical coherence tomography, OCT)等新技术的应用不仅显著提升了诊断灵敏度与特异度,更在肿瘤亚型鉴别和边界描绘方面展现出独特优势。在分子机制研究方面,代谢组学揭示了眼睑BCC存在显著的代谢重编程,包括脂质代谢、烟酰胺腺嘌呤二核苷酸(nicotinamide adenine dinucleotide, NAD)代谢、多胺代谢以及葡萄糖代谢等多条代谢通路的异常活化。更为前沿的空间代谢组学技术则将代谢信息与组织空间位置相结合,进一步验证了磺酸、羟基吡啶硫酮等特异性代谢物在肿瘤发生发展中的潜在生物标志物价值。治疗方面,除了传统手术治疗之外,放射治疗的技术革新,以及针对Hedgehog信号通路的靶向药物及免疫抑制剂等免疫疗法的突破,为晚期/转移性患者带来了革命性的治疗转机。文章旨在为未来的眼睑BCC预防和治疗策略提供新的见解,并为临床医生提供新的诊疗思路。
Eyelid basal cell carcinoma (BCC), the most prevalent malignant tumor of the ocular adnexa, has seen a steady rise in global incidence, accompanied by a notable trend toward earlier onset. This trend not only exacerbates the public health burden but also imposes greater demands on clinical strategies for prevention and management. This article reviews the latest research progress in the diagnosis and treatment of eyelid BCC. In diagnostic practice, alongside conventional histopathological examination, the incorporation of novel technologies—such as dermoscopy, reflectance confocal microscopy (RCM), and optical coherence tomography (OCT)—has markedly enhanced diagnostic sensitivity and specificity, while offering distinct advantages in tumor subtype differentiation and margin assessment. Metabolomic analyses reveal pronounced metabolic reprogramming in eyelid BCC, with aberrant activation of lipid, NAD, polyamine, and glucose metabolism. Spatial metabolomics further supports the biomarker potential of metabolites such as taurine and pyrithione in tumor initiation and progression. Beyond conventional surgery, advances in radiotherapy, targeted Hedgehog pathway inhibitors, and immunotherapies have created new opportunities for advanced or metastatic eyelid BCC. This review highlights emerging strategies for prevention, diagnosis, and treatment, offering clinicians fresh perspectives for patient management.

MMP-2在单纯疱疹病毒性角膜炎中的研究进展

Research progress of MMP-2 in herpes simplex keratitis

:763-767
 
角膜因其特有的内部有序排列结构具有高度透明性,是眼前部重要的屈光间质,又因其缺乏血液供应,角膜疾病恢复周期较长、病情易反复出现,严重影响患者的视力和日常生活。基质金属蛋白酶(matrix metalloproteinase, MMP)通过参与组织蛋白降解重塑、血管生成、炎症免疫反应等,在肺纤维化、动脉粥样硬化等众多疾病中具有重要作用,其中MMP-2(明胶酶A)在眼部相关疾病中的作用也逐渐受到关注。单纯疱疹病毒性角膜炎具有高度致盲性,反复发作会导致角膜失去透明性,角膜混浊逐渐加重,最终导致失明。研究者通过对MMP-2在HSK、角膜溃疡中的病理作用机制进行分析研究,发现MMP-2的特异性抑制药物在角膜炎中具有一定的临床应用前景,未来或可从本文的研究角度出发,适当增加相关的药物治疗研发,解决目前治疗的局限性,以期为角膜疾病患者带来新的有效治疗方案。
The cornea has a high degree of transparency due to its unique internal orderly arrangement structure, and as a major refractive media in the anterior eye. However, due to its lack of blood supply, the recovery period of corneal diseases is long and the condition is prone to recurrence, corneal diseases seriously affecting the patient's vision and daily life. Matrix Metalloproteinases play an important role in many diseases, such as pulmonary fibrosis and atherosclerosis, by participating in tissue protein degradation and remodelling, angiogenesis, inflammatory immune response, etc. Among them, the role of MMP-2 in ocular diseases has also been gradually explored and studied. Herpes simplex virus keratitis is highly blinding, and repeated attacks can cause the cornea to lose transparency, gradually worsen corneal opacity, ultimately resulting in blindness. By analysing the mechanism of MMP-2 in herpesvirus keratitis and corneal ulcers, researchers were found that specific inhibitions of MMP-2 have certain clinical application prospects in keratitis. In the future, from the perspective of this study, it may be appropriate to increase the research and development of related drug treatments, solve the limitations of current treatments, and bring new effective treatment options for corneal disease patients.
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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