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.
Aims: This study describes vascular abnormalities in X-linked retinoschisis (XLRS) using fundus fluorescein angiography (FFA) and ultra-widefield swept-source optical coherence tomography angiography (UWF SS-OCTA) to better understand the disease's vascular features and impact. Methods: A retrospective cross-sectional study was conducted on 26 XLRS patients (46 eyes). A comprehensive ophthalmic examination was performed, including FFA and UWF SS-OCTA. FFA abnormalities were divided into peripheral schisis-associated and optic disc-associated types. Results: The mean age of patients was 11.3±6.5 years. Macular schisis appeared in 97.8% of eyes, peripheral schisis in 89.1%, and peripheral bullous schisis (PBS) in 67.39%. Major vascular changes identified by FFA included dendritic capillary dilation/leakage (91.3%), internal residual vessel leakage (78.3%), and capillary dropout/ischemia (71.7%). Minor changes included zonal retinal pigment epithelium (RPE) proliferation (6.5%), bridging vessels (4.4%), and capillary sheathing (4.4%). peripapillary choroidal neovascularization (PPCNV) was noted in 10.9% and situs inversus of optic disc in 13.0% of eyes. Additionally, situs inversusof optic disc and zonal RPE proliferation were novel findings. Major FFA changes correlated with broader PBS (P = 0.045) (P ＜ 0.001) (P = 0.003). Clock hours of PBS were significant predictors for internal residual vessel leakage (OR = 0.30, P = 0.03). No significant correlation was found between gene mutation type and FFA abnormalities(P = 1.000)(P = 0.539). Conclusions: This study highlighted the significant prevalence (95.7%) of vascular abnormalities in XLRS and emphasized the importance of combining FFA with UWF SS-OCTA for comprehensive evaluation, enhancing the understanding of XLRS pathophysiology and aiding in targeted treatment approaches.
Aims: This study describes vascular abnormalities in X-linked retinoschisis (XLRS) using fundus fluorescein angiography (FFA) and ultra-widefield swept-source optical coherence tomography angiography (UWF SS-OCTA) to better understand the disease's vascular features and impact. Methods: A retrospective cross-sectional study was conducted on 26 XLRS patients (46 eyes). A comprehensive ophthalmic examination was performed, including FFA and UWF SS-OCTA. FFA abnormalities were divided into peripheral schisis-associated and optic disc-associated types. Results: The mean age of patients was 11.3±6.5 years. Macular schisis appeared in 97.8% of eyes, peripheral schisis in 89.1%, and peripheral bullous schisis (PBS) in 67.39%. Major vascular changes identified by FFA included dendritic capillary dilation/leakage (91.3%), internal residual vessel leakage (78.3%), and capillary dropout/ischemia (71.7%). Minor changes included zonal retinal pigment epithelium (RPE) proliferation (6.5%), bridging vessels (4.4%), and capillary sheathing (4.4%). peripapillary choroidal neovascularization (PPCNV) was noted in 10.9% and situs inversus of optic disc in 13.0% of eyes. Additionally, situs inversusof optic disc and zonal RPE proliferation were novel findings. Major FFA changes correlated with broader PBS (P = 0.045) (P ＜ 0.001) (P = 0.003). Clock hours of PBS were significant predictors for internal residual vessel leakage (OR = 0.30, P = 0.03). No significant correlation was found between gene mutation type and FFA abnormalities(P = 0.539). Conclusions: This study highlighted the significant prevalence (95.7%) of vascular abnormalities in XLRS and emphasized the importance of combining FFA with UWF SS-OCTA for comprehensive evaluation, enhancing the understanding of XLRS pathophysiology and aiding in targeted treatment approaches.
Schlemm管（Schlemm's canal，SC）作为房水流出的主要通道，通过调节房水外排来维持眼内压的平衡，其结构和功能的异常与高眼压及青光眼的发生发展密切相关。对SC的研究有助于阐明房水外排阻滞的发生机制、探索新的途径以增加房水排出，从而为降低眼压和青光眼治疗的新药物开发提供基础。目前，对SC发育和功能的调节机制的认识仍然有限，缺乏针对SC的特异性治疗策略。近年来，关于SC细胞命运决定及其结构发育的细胞学机制逐渐被揭示，功能调控的关键分子靶标也相继被发现，这促进了对SC结构和功能调控的深入理解。此外，作为降眼压药物靶点和针对性手术的创新应用也在不断拓展。文章系统回顾SC的结构与功能研究，总结关键的分子和细胞学调控机制，归纳SC靶向药物和手术疗法的最新进展，为青光眼的临床诊治提供了新的思路。
Schlemm's canal (SC), as the primary pathway for aqueous humor drainage, maintains intraocular pressure balance by regulating aqueous outflow. Abnormalities in its structure and function are closely associated with elevated intraocular pressure and the development of glaucoma. Research on SC aids in elucidating the mechanisms behind outflow resistance and exploring new avenues to enhance aqueous drainage, thereby providing a foundation for the development of new drugs aimed at lowering intraocular pressure and treating glaucoma. Currently, our understanding of the mechanisms regulating SC development and functionality remains limited, with a lack of specific therapeutic strategies targeting SC. In recent years, advancements in measurement and imaging technologies have revealed the molecular and cellular mechanisms underlying SC development, leading to the identification of key regulatory targets. This has enhanced our understanding of SC structural and functional regulation. Furthermore, innovative applications of SC as a target for intraocular pressure-lowering medications and surgical interventions are continually expanding. This article systematically reviews the research on the structure and function of SC, summarizes the key molecular and cellular regulatory mechanisms, and discusses the latest advancements in SC-targeted pharmacological and surgical therapies, providing new insights for the clinical diagnosis and management of glaucoma.
目的：探讨提高眼科喉罩全身麻醉患儿在麻醉恢复室(post-anesthesia care unit, PACU)复苏质量与效率的整体护理策略。方法：选取2020年1月—2023年12月在中山大学中山眼科中心行眼科全身麻醉并保留喉罩进入PACU复苏的24 180例患儿，总结患儿在PACU复苏的护理措施及复苏质量。结果：所有患儿经复苏期综合护理后均顺利拔除喉罩完成麻醉复苏，未发生苏醒期二次插管或非计划转院治疗。采取个性化的整体护理策略后，喉罩全身麻醉患儿PACU平均复苏时间明显缩短。部分术后常见并发症(术后躁动，低氧血症和呼吸道梗阻)和护理不良事件(留置针脱落和眼包脱落)发生率逐年降低，经治疗和护理后均获得改善。结论：针对眼科全身麻醉的患儿特点，在麻醉复苏期采取个性化的整体护理策略，有利于顺利完成麻醉复苏，降低麻醉并发症和护理不良事件的发生率，提高复苏质量效率，满足眼科日间手术快速康复的需求。
Objective: To explore holistic nursing strategies to improve the quality and efficiency of post-anesthesia care unit (PACU) resuscitation in childrenpatients undergoing ophthalmic laryngeal mask anesthesia. Methods: A total of 24,180 children patients who underwent general anesthesia and retained laryngeal mask airway for PACU resuscitation at Sun Yat-sen Ophthalmic Center of Sun Yat sen University from January 2020 to December 2023 was reviewed and summarized the nursing measures and resuscitation quality of children patients undergoing PACU resuscitation. Results: All patients underwent comprehensive care during the recovery period and successfully removed the laryngeal mask to complete anesthesia recovery. There were no cases of secondary intubation or unplanned transfer for treatment during the recovery period. After adopting personalized holistic nursing strategies, the average recovery time of PACU in children under laryngeal mask anesthesia was significantly shortened.The incidence of common postoperative complications(postoperative agitation, hypoxemia and respiratory obstruction)and adverse nursing events (indwelling needle falls off, eye bandage fall off)had been decreasing year by year. These complications had been improved after treatment and care. Conclusions: Based on the characteristics of children patients undergoing general anesthesia in ophthalmology, adopting personalized holistic nursing strategies during the anesthesia recovery period is beneficial for successfully completing anesthesia recovery, reducing the incidence of anesthesia complications and adverse nursing events, improving the quality and efficiency of recovery, and meeting the needs of rapid recovery in ophthalmic day surgery.
Age stands as a primary risk factor for diseases and disabilities among the elderly. To effectively assess the underlying aging processes, accurate measures of biological age and rates of aging across multiple levels of aging features are essential. Biological age derives from physiological assessments of systems and organs. It has emerged as a superior predictor of age-related diseases and mortality compared to chronological age. Recent advancements in machine learning have catalyzed the development of sophisticated models capable of quantitatively characterizing biological aging with different types of data. This review explores the machine learning models in advancing our understanding of biological aging, highlighting the potential of these innovative approaches to facilitate aging research and personalized healthcare strategies.
Age stands as a primary risk factor for diseases and disabilities among the elderly. To effectively assess the underlying aging processes, accurate measures of biological age and rates of aging across multiple levels of aging features are essential. Biological age derives from physiological assessments of systems and organs. It has emerged as a superior predictor of age-related diseases and mortality compared to chronological age. Recent advancements in machine learning have catalyzed the development of sophisticated models capable of quantitatively characterizing biological aging with different types of data. This review explores the machine learning models in advancing our understanding of biological aging, highlighting the potential of these innovative approaches to facilitate aging research and personalized healthcare strategies.
