目的：总结MAB21L2基因的变异和临床特点，并与高度同源的MAB21L1基因进行比较。 方法：对中山眼科中心临床基因数据库中MAB21L2基因变异患者进行基因型和表型分析，回顾性分析既往文献报道的MAB21L2基因和高度同源基因MAB21L1变异的表型-基因型的关系。结果：在2个小眼畸形家系中发现2个MAB21L2基因杂合变异：先证者1携带已知变异c.151C>G/p.(Arg51Gly)，患者双眼小眼畸形伴虹膜脉络膜缺损，伴骨关节屈曲。母亲携带相同杂合变异但表型正常；先证者2携带未报道的变异c.1042G>T/p.(Glu348*)，左眼小眼畸形，右眼正常且无全身异常。结合文献回顾发现，在显性遗传模式下，80%的MAB21L2杂合致病变异(20/25)和100%的MAB21L1杂合致病变异(25/25)发生在氨基酸49-52 区域，导致小眼无眼或眼缺损异常(microphthalmia, anophthalmia or coloboma,MAC)；携带该区域MAB21L2基因杂合突变的患者除MAC外，部分还伴骨骼关节发育异常(12/24，50%)；杂合截短变异发生在MAB21L2基因可导致MAC(5/5，100%)，而发生在MAB21L1则不致病。 结论：在2个小眼畸形家系中发现了MAB21L2基因1个新致病变异和1个已知热点致病变异，通过文献综述比较和总结了MAB21L1和MAB21L2基因的突变频谱以及基因型-表型相互关系，为此类基因缺陷导致遗传病的诊断和鉴别诊断提供依据。
Objective: To summarize the genetic variations and clinical features of the MAB21L2 and compare them with the highly homologous MAB21L1 gene. Methods: A genotype -genotype analysis was performed on the patients with MAB21L2 gene variants in the clinical genetic database of Zhongshan Ophthalmic Center, Sun Yat-sen University. A retrospective review was undertaken to analyze the phenotype-genotype correlations of MAB21L2 gene variants and the highly homologous MAB21L1 gene variants reported in the previous literature. Results: Two heterozygous MAB21L2 gene variants were identified in two families with microphthalmia: Proband 1 carried the known variant c.151C>G/p.(Arg51Gly), presenting with bilateral microphthalmia with iris-choroidal coloboma and flexion of joints. The mother carried the same heterozygous variant but had a normal phenotype. Proband 2 carried the unreported variant c.1042G>T/p.(Glu348*), manifesting as left-sided microphthalmia with a normal right eye and no other systemic abnormalities. Through literature review, we found that under a dominant inheritance pattern, 80% of heterozygous pathogenic MAB21L2 variants (20/25) and 100% of heterozygous pathogenic MAB21L1 variants (25/25) occurred in the amino acid region 49-52, resulting in microphthalmia, anophthalmia, and coloboma (MAC). Some patients with heterozygous MAB21L2 variants in this region exhibited additional skeletal and joint dysplasia (12/24, 50%). Heterozygous truncating variants in MAB21L2 led to MAC (5/5, 100%), while those in MAB21L1 were non-pathogenic. Conclusions: This study identified a novel pathogenic variant and a known hotspot pathogenic variant of MAB21L2 in two families with microphthalmia. Through a comprehensive literature review, we compared and summarized the mutation spectrums and genotype-phenotype correlations of MAB21L1 and MAB21L2 genes, providing valuable insights for the diagnosis and differential diagnosis of genetic diseases caused by these gene defects.
目的：比较六种新一代人工晶状体(intraocular lens,IOL)屈光力计算公式[Barrett Universal Ⅱ(BUⅡ)、Emmetropia Verifying Optical(EVO)、Hill-Radial Basis Function (Hill-RBF)、Kane、Ladas Super Formula(LSF)、T2]和传统公式(Haigis、Hoffer Q、Holladay 1、SRK/T)的准确性。方法：纳入2022年1—6月于温州医科大学附属眼视光医院接受白内障手术患者。收集患者的年龄、性别、眼轴(axial length,AL)、平均角膜曲率(mean keratometry,Kmean)、前房深度、IOL常数和屈光力，术后医学验光结果。对上述10种公式进行准确性分析，包括平均预测误差(mean prediction error,ME)及其标准差、平均绝对预测误差(mean absolute prediction error,MAE)、绝对预测误差中位数(median absolute prediction error,MedAE)、绝对预测误差最大值(maximum absolute prediction error,MaxAE)、预测误差落在±0.25、±0.5、±0.75、±1.00 D范围内的百分比(%±0.25 D、%±0.50 D、%±0.75 D、%±1.00 D)。结果：共纳入506例(506眼)。Kane的MAE最低(0.411)。Hill-RBF的%±0.25 D最高(40.91%)，EVO的%±0.50 D或%±0.75 D最高(分别为69.37%、86.17%)，BUⅡ和Hill-RBF的%±1.00 D最高(均为94.07%)。总体上各种公式间，MAE、%±0.50 D、%±0.75 D、%±1.00 D比较差异存在统计学意义(P<0.05)，但两两比较仅发现%±0.75 D中，EVO(86.17%)、Hill-RBF(85.97%)、Kane(85.57%)与HofferQ(81.42%)比较差异存在统计学意义(均P<0.05)。AL亚组中，长AL组的EVO(0.390)、Hill-RBF(0.388)、T2(0.423)、Kane(0.393)四种公式的MAE与Hoffer Q(0.681)、Holladay 1(0.654)比较差异存在统计学意义(均P<0.05)，EVO(74.47%)的%±0.50 D与Hoffer Q(46.81%)比较差异存在统计学意义(P=0.017)。结论：新一代IOL屈光力计算公式在IOL屈光力计算上均具有较好的准确性，但对于不同的眼轴长度与角膜曲率值的眼球，需要选择适合的计算公式，以进一步提高预测准确性。
Objective: This study aimed to compare the accuracy of six new generation intraocular lenses (IOL) refractive power calculation formulas (Barrett Universal Ⅱ [BU Ⅱ ], Emmetropia Verifying Optical [EVO], Hill-Radial Basis Function [Hill-RBF], Kane, Ladas Super Formula [LSF], T2) and traditional formulas (Haigis, Hoffer Q, Holladay 1, SRK/ T). Methods: The patients who received cataract surgery in the Eye Hospital of Wenzhou Medical University from January 2022 to June 2022 were included in this study. Age, gender, axial length (AL), mean keratometry, anterior chamber depth, IOL constant and power, and postoperative refraction results were collected. The prediction accuracy of these ten IOL power calculation formulas was analyzed, including mean prediction error (ME) and its standard deviation, mean absolute prediction error (MAE), median absolute prediction error (MedAE), maximum absolute prediction error (MaxAE), the percentage of eyes of PE within the range of ±0.25 D, ±0.5 D, ±0.75 D, ±1.0 D (%±0.25 D,%±0.50 D, %±0.75 D, %±1.00 D). Results: 506 eyes of 506 patients were included. Kane has the lowest MAE (0.411).%±0.25 D of Hill-RBF was the highest (40.91%), %±0.50 D or %±0.75 D of EVO was the highest (69.37%, 86.17%), and %±1.00 D of BU Ⅱ and Hill-RBF was the highest (94.07%). There are significant differences in MAE, %±0.50 D, %±0.75 D, and %±1.00 D among all formulas (P<0.05). Still, pairwise comparison only found differences between EVO (86.17%), Hill-RBF (85.97%), Kane (85.57%), and Hoffer Q (81.42%) in %±0.75 D (all P<0.05). In AL subgroup, the MAE of EVO (0.390), Hill-RBF (0.388), T2 (0.423) and Kane (0.393) in long AL group was different from that of Hoffer Q (0.681) and Holladay 1 (0.654) (all P<0.05), the difference of %±0.50D of EVO (74.47%) compared with Hoffer Q (46.81%) (P=0.017). Conclusion: The new generation of IOL power calculation formulas have good accuracy in IOL power prediction, but for eyes with different axial lengths and keratometry, it is necessary to optimize the selection of formulas to improve the prediction accuracy further.
作为一种新型无创且操作简单的主观检查手段，临界闪烁融合频率(critical flicker fusionfrequency,CFF)可动态反映人眼视功能变化情况。作为早期识别脱髓鞘病变和评估视功能恢复情况的敏感指标，上个世纪已被国外学者用于视网膜和视神经疾病研究中，包括氯喹中毒性视网膜病变、糖尿病视网膜病变、中心性浆液性视网膜病变、年龄相关的黄斑病变、乙胺丁醇中毒性视神经病变、视神经炎和非动脉炎性前部缺血性视神经病变。在视网膜和视神经疾病中，CFF均有不同程度下降，依据CFF改善程度以及主要损害的色光可能有助于视网膜和视神经疾病的鉴别，且CFF与其他视功能，视力、视野、视觉诱发电位的潜时具有较好的相关性。目前国内相关研究尚处于起步阶段，本文就CFF在视网膜和视神经疾病的应用情况做一总结。
As a new non-invasive and simple subjective examination method, critical flicker fusion frequency (CFF) can dynamically reflect the changes of visual function of human eyes. As a sensitive indicator for early identification of demyelinating diseases and assessment of visual function recovery, it has been used by foreign scholars in the last century in the field of retinal and optic nerve diseases, including chloroquine toxic retinopathy, diabetic retinopathy, central serous retinopathy, age-related macular degeneration, ethambutol-induced optic neuropathy, optic neuritis and non-arteritic anterior ischemic optic neuropathy. Though there was a different decrease of CFF in retina and optic nerve diseases, it may be helpful for the differentiation of retinal and optic nerve diseases according to the degree of CFF improvement and the main damaged color light. Moreover, CFF has a good correlation with other visual functions, visual acuity, visual field, and peak time of visual evoked potential. At present, and relevant domestic studies is still in its infancy. This article summarizes the application of CFF in retinal and optic nerve diseases.
人工智能(artificial intelligence，AI)为解决中国患者“看病难”问题提供了可行方案。眼科AI已实现为患者提供筛查、远程诊断及治疗建议等方面的服务，能显著减轻医疗资源不足的压力和患者的经济负担。而AI的应用过程中，给医疗管理带来的挑战应引起重视。本文从医疗管理的角度，总结分析AI在眼科医疗过程中，尤其是交接环节中出现的主要问题，提出对策与建议，并讨论AI在眼科医疗的应用展望。
Artificial intelligence (AI) has been proposed as a potential solution to address the shortage of ophthalmologists in China. With the increasingly extensive application of AI in the field of ophthalmology, many potential patients with eye diseases have access to a higher quality of medical services. At the same time, new challenges will emerge and proliferate with the advancement of AI application. This paper focuses on the patient handoffs process and discusses two challenges brought by the application of AI, namely “communication” and “standardization”. Natural language processing techniques and the development of standardized databases are proposed to solve each of these challenges. The application prospects of AI in ophthalmology are eventually discussed.
先天性晶状体不全脱位是一种较为罕见的晶状体悬韧带异常的疾病，其手术治疗极具挑战性。以人工晶状体悬吊为代表的传统手术方式易出现囊袋破裂、玻璃体疝、人工晶状体脱位和继发性青光眼等严重并发症。近年来，以重建囊袋悬韧带隔为目标，新型囊袋辅助装置的应用极大程度提高了先天性晶状体不全脱位的手术成功率。然而，以改良式张力环为代表的囊袋辅助装置在我国仍难以得到普及且操作繁琐。因此，如何最大程度利用普通张力环等最常见的装备，设计出一种安全可靠手治疗先天性晶状体不全脱位的手术方式是眼科界亟待解决的问题。本文将介绍一种二期张力环缝合固定治疗先天性晶状体不全脱位手术技术。该技术仅需使用普通张力环，具有操作简单安全、术后效果稳定和易于技术推广的优点。
Congenital ectopia lentis is a relatively rare zonular disorder of the lens, and its surgical treatment is extremely challenging. The traditional surgical procedures represented by intraocular lens suspension are prone to result in serious complications such as capsular bag rupture, vitreous hernia, intraocular lens dislocation and secondary glaucoma. In recent years, with the goal of reconstructing the capsular bag–zonules diaphragm, the application of new capsular bag-assisted devices has greatly improved the surgical success rate of congenital ectopia lentis. However, the capsular-assisted devices, such as modified capsular tension ring, are still difficult to be popularized in China and the surgical procedures are complicated. Therefore, how to maximize the use of common equipment such as normal capsular tension rings and design a safe and reliable surgical method for the treatment of congenital ectopia lentis is an urgent issue for ophthalmologists. This article aims to introduce a two-stage capsular tension ring fixation for the treatment of congenital ectopia lentis, which has many advantages such as simple and safe operation, stable postoperative effect and less requirements for special equipment, and is worth promoting in clinical practice.
人工智能是对人类智能的模拟和拓展。基于深度学习的人工智能可以很好地利用图像的内在特征，如轮廓、框架等，来分析图像。研究人员通常利用图像来诊断眼底病，因此将人工智能应用于眼底检查是有意义的。在眼科领域，人工智能通过分析光学相干断层扫描图像、眼底照片和超宽视野图像，已经在检测多种眼底疾病上取得了类似医生的性能。它也已经被广泛应用于疾病进展预测。然而，人工智能在眼科的应用也存在一些潜在的挑战，黑盒问题是其中之一。研究人员致力于开发更多的可解释的深度学习系统，并确认其临床可行性。人工智能在最流行的眼底病中的最新应用、可能遇到的挑战以及未来的道路将一一阐述。
Artificial intelligence (AI) is about simulating and expanding human intelligence. AI based on deep learning (DL) can analyze images well by using their inherent features, such as outlines, frames and so on. As researchers generally diagnoses ocular fundus diseases by images, it makes sense to apply AI to fundus examination. In ophthalmology, AI has achieved doctor-like performance in detecting multiple ocular fundus diseases through optical coherence tomography (OCT) images, fundus photographs, and ultra-wide-field (UWF) images. It has also been widely used in disease progression prediction. Nonetheless, there are also some potential challenges with AI application in ophthalmology, one of which is the black-box problem. Researchers are devoted to developing more interpretable deep learning systems (DLS) and confirming their clinical feasibility. This review describes a summary of the state-of-the-art AI application in the most popular ocular fundus diseases, potential challenges and the path forward.
目的：探究间歇性禁食(intermittent fasting, IF)对内毒素诱导小鼠葡萄膜炎(endotoxin-induced uveitis, EIU)的保护作用及其可能的抗炎机制。方法：小鼠随机分为对照组(Ctr)、EIU组及IF+EIU组。16∶8禁食方案(9 : 00—17 : 00进食)。对照组行玻璃体腔内注射磷酸盐缓冲溶液(phosphate buffered saline, PBS)，其余两组行玻璃体腔内脂多糖注射。建模后监测小鼠空腹血糖及体质量。光学相干断层扫描和苏木精伊红染色观察评估炎症水平。视网膜铺片行神经炎症相关的观察评价。BV2细胞分为Ctr组，LPS组及饥饿+内毒素组，蛋白印迹及实时荧光定量逆转录PCR技术检测相关蛋白及mRNA表达水平。结果：①IF对体质量无明显影响，可引起血糖显著降低随后逐渐恢复。病程中期起IF干预下小鼠视网膜水肿恢复，玻璃体腔内炎性渗出比EIU组显著减少(P＜0.01)。IF逆转LPS诱导的小胶质细胞激活，减轻视网膜神经节细胞及神经纤维损伤(P＜0.05)。②饥饿培养抑制LPS诱导的BV2细胞的磷酸化信号转导与转录激活因子1和3及诱导型一氧化氮合酶( inducible nitric oxide synthase, iNOS)的蛋白表达水平(P＜0.05)，显著降低iNOS、白介素-6等炎症因子的表达水平。结论：IF能够加速EIU炎症的消退，减轻组织结构的炎性破坏，抑制小胶质细胞的促炎型激活。
Objective: To investigate the protective effects of intermittent fasting (IF) on endotoxin-induced uveitis in mice and its potential anti-inflammatory mechanisms. Methods: Mice were randomly divided into three groups: control group (Ctr), endotoxin-induced uveitis (EIU) group, and IF + EIU group. The IF regimen followed a 16:8 fasting scheme (feeding from 9:00 to 17:00). The control group received intravitreal injections of PBS, while the other two groups received intravitreal injections of lipopolysaccharide (LPS). After modeling, fasting blood glucose and body weight of the mice were monitored. Inflammation levels were assessed using OCT and H&E staining. Retinal flat mounts were used for evaluating neuroinflammation. BV2 cells were divided into Ctr group, LPS group, and starvation (LG) + LPS group. The expression levels of related proteins and mRNA were detected using WB and RT-qPCR. Results: IF had no significant effect on body weight but caused a significant decrease in blood glucose, which gradually recovered. From the middle stage of the disease, mice in the IF intervention group show edretinal edema recovery, significantly reduced intravitreal inflammatory exudation and cell infiltration compared to the EIU group (P <0.01). IF reversed LPS-induced microglial activation and significantly alleviated damage to retinal ganglion cells and nerve fibers (P <0.05). Starvation culture significantly inhibited LPS-induced expression levels of p-STAT1/3 and iNOS proteins in BV2 cells (P <0.05) and significantly reduced the expression levels of inflammatory factors such as iNOS and IL-6. Conclusion: IF can accelerate the resolution of EIU inflammation, reduce inflammatory damage to tissue structures, and inhibit pro-inflammatory activation of microglia.
目的：调查眼科学硕士研究生批判性思维能力的现况，并了解其相关因素。方法：采用中文版评判性思维能力测量表(Critical Thinking Disposition Inventory-Chinese Version, CTDI-CV)对81名眼科学硕士研究生进行问卷调查，比较不同性别、年级、学位类别、学制的学生批判性思维能力的差异。结果：81名眼科学硕士研究生的CTDI-CV总分为(294.79±29.18)分，表明普遍具备积极的批判性思维能力，但“寻找真相”和“系统化能力”得分较低；不同年级与学位类型的眼科学硕士研究生的批判性思维能力等级分布存在差异。多因素线性回归显示，学位类型与眼科学硕士研究生的批判性思维能力相关。结论：眼科学硕士研究生普遍展现出正性的批判性思维特质，但在特定领域，其批判性思维能力仍有待提高，研究生教育应当采取针对性措施，培养研究生的批判性思维能力。
Objective: To investigate the current situation of critical thinking abilities of masters’ degree postgraduates in ophthalmology and identify the factors affecting the critical thinking abilities. Methods: Using the Critical Thinking Disposition Inventory-Chinese Version (CTDI-CV), a questionnaire survey was conducted among 81 masters’ degree postgraduates in ophthalmology. Results: The average total score of the CTDI-CV for the 81 master’s degree postgraduates in ophthalmology was 294.79±29.18, indicating a general possession of positive critical thinking abilities, yet scores in “Truth Seeking” and “Systematicity” were relatively low. There are differences in critical thinking abilities among master’s degree postgraduates in ophthalmology of various grades and degree categories. Multivariate linear regression indicates that degree categories is correlated with the critical thinking abilities of ophthalmology graduate students. Conclusions: The masters’ degree postgraduates in ophthalmology generally exhibit positive traits of critical thinking, yet there is room for improvement in specific areas. Postgraduate education should adopt targeted measures to cultivate the critical thinking abilities of postgraduates.
青光眼是世界首位不可逆性致盲性眼病，降眼压是唯一被证实有效的干预措施。手术是降低眼压的主要途径，近年来创伤更小、术后炎症反应更轻、并发症更少的微创青光眼手术逐渐在临床得到应用。超声睫状体成形术(ultrasound cycloplasty, UCP)是一种新型微创青光眼治疗技术。本文综述了国内外现有研究，表明UCP在治疗各种类型青光眼中均表现出良好的降眼压效果，但不同类型青光眼疗效存在一定差异。UCP可减少术后局部抗青光眼药物的使用数量，同时显示出较少的并发症和较轻的术后反应。与其他睫状体分泌功能减弱性手术相比，该手术在缓解难治性青光眼患者因高眼压导致的局部疼痛方面尤为有效。青光眼类型、超声探头型号匹配及治疗扇区数量是影响疗效的主要因素，其适应证的准确把握及手术参数设计的优化将进一步提高其治疗效果。本文归纳了UCP治疗青光眼的作用原理、手术操作与术后用药、适应证与禁忌证、有效性、安全性及其疗效的影响因素，以期为其临床应用和研究提供参考依据。
Glaucoma is the leading cause of irreversible blindness worldwide. Lowering intraocular pressure (IOP) is the only proven intervention to effectively prevent visual field deterioration and slow the progression of glaucoma. Surgery plays a critical role in reducing IOP, with traditional glaucoma surgeries focusing primarily on classic filtration procedures. In recent years, minimally invasive glaucoma surgeries (MIGS), characterized by less trauma, milder postoperative inflammation, and fewer complications, have been increasingly applied and continuously refined in clinical practice. Ultrasound cycloplasty (UCP) is a novel, minimally invasive technique for glaucoma treatment. This article reviews existing research both domestically and internationally, showing that UCP demonstrates good IOP-lowering effects in various types of glaucoma, though its efficacy varies across different glaucoma types. UCP reduces the need for postoperative anti-glaucoma medications, while also exhibiting fewer complications and milder postoperative reactions. Compared with other ciliary body function-reducing surgeries, UCP is particularly effective in alleviating local pain caused by elevated IOP in patients with refractory glaucoma. The type of Glaucoma, matching of the ultrasound probe model, and the number of treatment sectors are key factors influencing UCP efficacy. Accurate selection of indications and optimization of surgical parameters will further enhance its therapeutic outcomes. This article summarizes the mechanisms, surgical procedures, postoperative medication, indications and contraindications, efficacy, safety, and factors influencing UCP outcomes in glaucoma treatment, aiming to provide a reference for its clinical application and research.
年龄相关性黄斑变性(age-related macular degeneration, AMD)是导致老年人失明的主要原因之一，其特征为光感受器的死亡和视网膜色素上皮细胞的变性。该病的发病机制复杂，涉及遗传、环境和代谢等多种因素。细胞衰老是AMD的重要危险因素，表现为细胞在经历有限次数的分裂后进入永久性细胞周期停滞状态。随着年龄增长，衰老细胞的数量增加，并与多种年龄相关的慢性疾病密切相关。细胞衰老的潜在机制包括氧化应激、DNA损伤、线粒体功能障碍、自噬/线粒体自噬缺陷以及表观遗传改变等。在AMD中，色素上皮细胞、血管内皮细胞、Bruch膜、感光细胞和小胶质细胞等不同类型的细胞均表现出衰老及其相关变化。细胞衰老在AMD的发病机制中起着关键作用，涉及多种视网膜细胞类型和血管系统的退化。通过深入研究这些机制，期望能开发出更有效的治疗方法，以帮助患者恢复和保护视力。本文回顾了细胞衰老的生物学机制及其在AMD中的作用，深入探讨了不同细胞衰老引发AMD发病的具体机制，旨在为AMD的发病机制和治疗研究提供新思路。
Age-related macular degeneration (AMD) is a leading cause of blindness among the elderly, characterized by the degeneration of retinal pigment epithelial cells and the death of photoreceptors. The pathogenesis of AMD is complex, involving a multitude of factors, including genetic, environmental, and metabolic influences. Cellular senescence serves as a significant risk factor for AMD, where cells enter a permanent state of cell cycle arrest after a limited number of divisions. As age increases, the accumulation of senescent cells is closely associated with various age-related chronic diseases. Key mechanisms underlying cellular senescence include oxidative stress, DNA damage, mitochondrial dysfunction, defects in autophagy and mitophagy, and epigenetic alterations. In the context of AMD, various cell types-including pigment epithelial cells, vascular endothelial cells, cells of Bruch's membrane, photoreceptors, and microglia-exhibit signs of senescence and related changes. Cellular senescence plays a pivotal role in the pathogenesis of AMD, contributing to the degeneration of different retinal cell types and supporting vascular systems. By thoroughly investigating these mechanisms, there is hope for the development of more effective therapies aimed at restoring and protecting vision in affected patients. This article reviews the biological mechanisms of cellular senescence and its role in AMD, exploring how different cell types contribute to the disease's onset, with the goal of providing new insights into the pathogenesis and treatment of AMD.
