综述

糖基化蛋白修饰在眼部疾病的研究进展

Research progress on protein glycosylation modification in ocular diseases

:220-228
 
糖基化是一种重要的蛋白质翻译后修饰,通常发生在内质网和高尔基体的特定位置。N-糖基化和O-糖基化是最常见的糖基化修饰类型。与其他翻译后修饰相比,糖基化具有独特的生物学意义,包括结构的复杂多样性,生物功能的重要性以及进化上的保守性。糖基化修饰对于蛋白质稳定性、细胞黏附与识别、细胞内信号传导和表观遗传学具有重要影响,从而参与调节细胞生物学和发病机制。近年来,越来越多的研究揭示了糖基化参与眼部疾病的发生和发展,包括眼表疾病、圆锥角膜、青光眼、年龄相关性黄斑变性、视网膜色素变性、糖尿病视网膜病变等。眼部蛋白糖基化异常可通过诱发新生血管形成、炎症反应、氧化应激、异常免疫应答等改变细胞的结构与功能,进而影响各种眼病的发生发展。通过深入研究糖基化在不同眼部疾病中的作用机制,可以为相关眼部疾病的早期诊断和治疗提供新的思路和方法。现综述糖基化在眼部疾病的研究进展,以探究调控蛋白质糖基化对眼部疾病的诊疗意义。
Glycosylation is an important post-translational modification of proteins that usually occurs at specific locations within the endoplasmic reticulum and Golgi apparatus. N-glycosylation and O-glycosylation are the most common types of glycosylation modifications. Compared to other post-translational modifications, glycosylation has unique biological significance, including structural complexity and diversity, crucial biological functions, and evolutionary conservation. Glycosylation modifications significantly impact protein stability, cell adhesion and recognition, intracellular signal transduction, and epigenetics, thereby regulating cellular biology and pathogenesis. In recent years, an increasing amount of research has revealed the involvement of glycosylation in the occurrence and development of ocular diseases, including ocular surface diseases, keratoconus, glaucoma, age-related macular degeneration, retinitis pigmentosa, and diabetic retinopathy. Abnormal glycosylation of ocular proteins can induce changes in cell structure and function through mechanisms such as neovascularization, inflammatory response, oxidative stress, and abnormal immune response, thereby influencing the occurrence and development of various eye diseases. By deeply studying the mechanisms of glycosylation in different ocular diseases, new insights and methods can be provided for the early diagnosis and treatment of related ocular diseases. This review summarizes the research progress of glycosylation in ocular diseases to explore the diagnostic and therapeutic significance of regulating protein glycosylation in ocular diseases.
综述

人工智能在白内障诊断的应用进展

Advances in artificial intelligence for cataract diagnosis

:160-168
 
白内障是世界范围内致盲的主要原因之一,占中低收入国家致盲病例的50%。随着人口老龄化程度的加深,到2050年中国白内障致盲病例预计达到2 000万。卫生支出占比低、医疗设备及眼科医生紧缺、筛查费用昂贵仍是中低收入国家无法开展大规模白内障筛查的主要原因。人工智能(artificial intelligence,AI)协助白内障诊断具有便捷、低成本、可远程进行等优点,有望减少甚至避免白内障致盲的发生。文章将对AI通过结合裂隙灯眼前节图像、眼底照片及扫频源光学相干层析图像进行白内障自动诊断等研究进行简要综述。
Cataract is a primary cause of blindness globally, particularly accounting for 50% of blindness cases in low- and middle- income countries. As the population ages, it is predicated that cataract blindness cases in China will rise to 20 million by 2050. However, low health expenditures, scarcity of medical equipment and ophthalmologists, and high screening costs continue to hinder mass cataract screening in these countries. Artificial intelligence(AI)-assisted cataract diagnosis offers significant advantages, including convenience, cost-effectiveness, and remote accessibility, potentially reducing or even eliminating cataract blindness. This review aims to concisely summarize the research on automatic cataract diagnosis utilizing AI, incorporating slit lamp images of anterior eye segment, fundus photographs, and swept source optical coherence tomography images.
封面简介

先天性小眼畸形

Congenital microphthalmia

:-
 
先天性小眼畸形是一种罕见的先天性眼球发育异常,表现为眼球体积缩小和结构紊乱,常伴有眼组织缺损,严重影响患者的视觉功能。该病可单独发生,仅影响眼部,也可作为全身综合征的表现之一,同时伴有全身多器官或系统的异常。目前已发现82个先天性小眼畸形致病基因,能解释近2/3患者的发病原因。MAB21L1和MAB21L2是高度同源的两个基因,两者的致病变异均可导致小眼畸形,但又各自存在独特的表型特征。本期封面文章报道了MAB21L2基因变异导致小眼畸形2例,并通过回顾文献绘制变异频谱,从变异热点、变异类型、表型特征和基因型-表型相互关系等方面,对MAB21L1和MAB21L2进行比较,为两者缺陷所致眼遗传病的鉴别和诊断提供依据。
先天性小眼畸形是一种罕见的先天性眼球发育异常,表现为眼球体积缩小和结构紊乱,常伴有眼组织缺损,严重影响患者的视觉功能。该病可单独发生,仅影响眼部,也可作为全身综合征的表现之一,同时伴有全身多器官或系统的异常。目前已发现82个先天性小眼畸形致病基因,能解释近2/3患者的发病原因。MAB21L1和MAB21L2是高度同源的两个基因,两者的致病变异均可导致小眼畸形,但又各自存在独特的表型特征。本期封面文章报道了MAB21L2基因变异导致小眼畸形2例,并通过回顾文献绘制变异频谱,从变异热点、变异类型、表型特征和基因型-表型相互关系等方面,对MAB21L1和MAB21L2进行比较,为两者缺陷所致眼遗传病的鉴别和诊断提供依据。
论著

基于 OA-2000 测量的硅油取出联合白内障手术患者人工晶状体计算公式预测准确性分析

Prediction accuracy analysis of intraocular lens calculation formulas in patients undergoing silicone oil removal combined with cataract surgery based on OA-2000 measurement

:857-866
 
目的:在硅油取出联合白内障手术患者中,使用扫频源光学相干断层扫描生物测量仪OA-2000进行生物测量,比较10种人工晶状体(IOL)屈光力计算公式的准确性。方法:回顾性分析2021年3月—7月于中山大学中山眼科中心接受硅油取出联合白内障手术的患者共62例(62眼),所有患者均使用扫频源光学相干断层扫描生物测量仪OA-2000进行生物学参数测量。计算并比较新公式[Barrett Universal II (BUII)、Emmetropia Verifying Optical(EVO) 2.0、Hill-Radial Basis Function (Hill-RBF) 3.0、Hoffer QST、Kane、Pearl-DGS]及传统公式(Haigis、Hoffer Q、Holladay 1、SRK/T)的预测准确性,主要评价指标为绝对预测误差中位数(MedAE)及平均绝对预测误差(MAE)。按眼轴长度≤23 mm(组1),>23 mm且≤26 mm(组2)与>26 mm(组3)进行亚组分析。结果:6个新公式、Haigis、SRK/T公式均出现近视漂移(-0.47 ~-0.27 D,P<0.05),而HofferQ及Holladay 1公式无系统误差(P>0.05)。Kane公式的MedAE(0.55 D)及MAE(0.81 D)最小,但公式间比较差异无统计学意义(P>0.05)。组1中所有公式均出现近视漂移(-1.46~ -1.25 D,P<0.05),而其他亚组比较差异无统计学意义(-0.32 ~ 0.41 D,P>0.05)。在组1中,Pearl-DGS公式的MedAE(0.97 D)及MAE(1.26 D)最小,且优于Hill-RBF 3.0(P=0.01)及SRK/T公式(P=0.02);组2中,Kane公式具有最小的MedAE(0.44 D)及MAE(0.66 D);组3各个公式屈光预测准确性比较差异无统计学意义(P>0.05)。结论:在使用OA-2000进行术前生物测量时,Kane公式在接受硅油取出联合白内障手术患者中的预测准确性较高;而眼轴长度≤23 mm时,Pearl-DGS公式可能更为准确。
Objective: To compare the accuracy of 10 intraocular lens (IOL) power calculation formulas in patients undergoing combined silicone oil removal and cataract surgery, biometry is performed using the swept-source optical coherence tomography biometer OA-2000. Methods: A retrospective analysis. A total of 62 patients (62 eyes) who underwent combined silicone oil removal and cataract surgery in Zhongshan Ophthalmic Center, Sun Yat-sen University from March to July in 2021 were enrolled. Preoperative biometry was performed by OA-2000 in all patients. New-generation formulas (Barrett Universal II [BUII], Emmetropia Verifying Optical [EVO] 2.0, Hill-Radial Basis Function [Hill-RBF] 3.0, Hoffer QST, Kane and Pearl-DGS) and traditional formulas (Haigis, Hoffer Q, Holladay 1 and SRK/T) were evaluated. The median absolute prediction error (MedAE) and mean absolute prediction error (MAE) were the main parameters used to assess accuracy. Subgroup analyses were performed based on the axial length of 23 mm and 26 mm. Results: Six new-generation formulas, Haigis, and SRK/T showed myopic shift (-0.47 ~ -0.27 D, P<0.05), while no systematic bias was found in Hoffer Q and Holladay 1 displayed (P>0.05). The smallest MedAE (0.55 D) and MAE (0.81 D) were found in Kane formula, but there was no statistically significant difference compared with other formulas (P>0.05). The myopic shift (-1.46 ~ -1.25 D, P<0.05) in eyes shorter than 23 mm were found in all formulas, while there was no significant systematic bias (-0.32 ~ 0.41 D, P>0.05) in other subgroups. In axial length shorter than 23 mm, the Pearl-DGS formula stated the smallest MedAE (0.97 D) and MAE (1.26 D), and was significantly more accurate than Hill-RBF 3.0 (P=0.01) and SRK/T (P=0.02). In eyes with an axial length between 23 mm and 26 mm, the Kane formula had the lowest MedAE (0.44 D) and MAE (0.66 D). No significant difference was found in eyes longer than 26 mm. Conclusion: The Kane formula showed the highest accuracy in patients undergoing combined silicone oil removal and cataract surgery measured by OA-2000, whereas the Pearl-DGS formula could be more accurate in eyes with an axial length shorter than 23 mm.
病例报告

角膜偏心切削 LASIK 术后白内障一例

Cataract after LASIK with eccentriccorneal ablation: a case report

:880-886
 
准分子激光原位角膜磨镶术(laser-assisted in situ keratomileusis,LASIK)是矫正屈光不正的重要角膜屈光手术方式之一。经过准分子激光切削的角膜,生物测量数据发生改变。对于此类患者,通过常规测量获得的参数数据以及使用常规计算公式确定的IOL屈光度将变得不再准确,由此将会导致术后较大的屈光误差,进而影响患者的视觉质量。本文报道一例46岁的男性白内障患者。该患者既往双眼屈光不正,曾接受过LASIK手术治疗。白内障术前角膜地形图检查发现该患者双眼存在角膜偏心切削,这为IOL屈光度的确定带来困难。手术医生通过角膜地形图判断角膜切削的居中性,在特定区域内选择角膜曲率K值,并采用Barrett True K公式计算出IOL屈光度。白内障术后患眼屈光误差相对较小,视力提高,视觉质量改善。
Laser-assisted in situ keratomileusis (LASIK) is a crucial corneal refractive surgery for correcting refractive errors. The cornea, after undergoing excimer laser ablation, undergoes changes in biometric measurements. For such patients, conventional measurements and IOL power calculations based on standard formulas may no longer be accurate, leading  to significant postoperative refractive errors and subsequently impacting the patient's visual quality. This article presents a case of a 46-year-old male cataract patient who had a history of refractive errors in both eyes and had previously undergone LASIK surgery. Preoperative corneal topography revealed corneal eccentric ablation in both eyes, posing challenges in determining IOL power. The surgeon assessed the centration of corneal ablation using corneal topography, selected the keratometry value (K value) within specific corneal regions, and calculated the IOL power using the Barrett True K formula. Postoperatively, the cataract patient experienced relatively minor refractive errors, leading to improved vision and enhanced visual quality.
综述

经角膜电刺激在视网膜疾病治疗中的研究进展

Research progress of transcorneal electrical stimulation in the treatment of retinal diseases

:708-714
 
近年来,眼部电流刺激(electrical stimulation,ES)在不同方向的研究中逐渐揭示了其在多种视网膜疾病中的潜在治疗价值。其中,经角膜电刺激(transcorneal electrical stimulation,TES)作为一种非侵入性的治疗方法,能对视网膜、视神经、眼底血管及其相关结构产生积极的影响。TES能够改善视力,在保护感光细胞和减缓疾病进展方面显示出积极效果,提高患者的生存质量,还能够在不损伤眼球的情况下调节大脑中的神经元活动,为视网膜疾病的治疗提供一种新的选择。该文对近年来TES在视网膜色素变性(retinitis pigmentosa,RP)、年龄相关性黄斑变性(age-related macular degeneration,AMD)、视网膜血管病、青光眼以及视神经病变等疾病中的应用研究进行了综述。研究发现,TES治疗是一种安全且无需手术的辅助治疗工具,具有广泛的应用前景。该文旨在为临床医师提供一个全面的TES研究概述,并深入探讨其在眼科学领域的潜在应用价值。然而,TES治疗的具体机制仍需进一步探讨,以便更好地应用于临床实践。同时,未来研究还应关注TES与其他治疗方法相结合的效果,以期为患者提供更多有效的治疗选择。
In recent years, electrical stimulation of the eye (ES) has gradually revealed its potential therapeutic value in a variety of retinal diseasesin different directions. Among them, transcorneal electrical stimulation (TES), as a non-invasive treatment, can have a positive effect on the retina, optic nerve, fundus vessels and related structures. TES can improve vision, show positive effects in protecting photoreceptor cells and slowing disease progression, improve the quality of life of patients, and can regulate neuronal activity in the brain without damaging the eyeball, providing a new option for the treatment of retinal diseases. The research on the application on TES on retinitis pigementosa (RP), age-related macular degeneration (AMD), retinal angiopathy, glaucoma and optic neuropathy are reviewed in this article. It is found in the study that TES therapy is a safe and surgery-free adjuvant therapy tool, and has a wide application prospect. The purpose of this article is to provide clinicians with a comprehensive overview of TES research,and to explore its potential application value in the field of ophthalmology. However, the specific mechanism of TES therapy still needs to be further explored in order to better apply in clinical practice. At the same time, future studies should also focus on the effect of combining TES with other treatment methods, in order to provide more effective treatment options for patients.
BJO专栏

人工智能白内障协同管理的通用平台

Universal artificial intelligence platform for collaborativemanagement of cataracts (authorized Chinese translation)

:665-675
 
目的:建立和验证一个涉及多级临床场景的白内障协作通用的人工智能(artificial intelligence,AI)管理平台,探索基于AI的医疗转诊模式,以提高协作效率和资源覆盖率。方法:训练和验证的数据集来自中国AI医学联盟,涵盖多级医疗机构和采集模式。使用三步策略对数据集进行标记: 1)识别采集模式;2)白内障诊断包括正常晶体眼、白内障眼或白内障术后眼;3)从病因和严重程度检测需转诊的白内障患者。此外,将白内障AI系统与真实世界中的居家自我监测、初级医疗保健机构和专科医院等多级转诊模式相结合。结果:通用AI平台和多级协作模式在三步任务中表现出可靠的诊断性能: 1)识别采集模式的受试者操作特征(receiver operating characteristic curve,ROC)曲线下面积(area under the curve,AUC)为99.28%~99.71%);2)白内障诊断对正常晶体眼、白内障或术后眼,在散瞳-裂隙灯模式下的AUC分别为99.82%、99.96%和99.93%,其他采集模式的AUC均 > 99%;3)需转诊白内障的检测(在所有测试中AUC >91%)。在真实世界的三级转诊模式中,该系统建议30.3%的人转诊,与传统模式相比,眼科医生与人群服务比率大幅提高了10.2倍。结论:通用AI平台和多级协作模式显示了准确的白内障诊断性能和有效的白内障转诊服务。建议AI的医疗转诊模式扩展应用到其他常见疾病和资源密集型情景当中。
Objective: To establish and validate a universal artificial intelligence (AI) platform for collaborative management of cataracts involving multilevel clinical scenarios and explored an AI-based medical referral pattern to improve collaborative efficiency and resource coverage. Methods: The training and validation datasets were derived from the Chinese Medical Alliance for Artificial Intelligence, covering multilevel healthcare facilities and capture modes. The datasets were labelled using a three step strategy: (1)capture mode recognition; (2) cataract diagnosis as a normal lens, cataract or a postoperative eye and (3) detection of referable cataracts with respect to aetiology and severity. Moreover, we integrated the cataract AI agent with a real-world multilevel referral pattern involving self-monitoring at home, primary healthcare and specialised hospital services. Results: The universal AI platform and multilevel collaborative pattern showed robust diagnostic performance in three-step tasks: (1) capture mode recognition (area under the curve (AUC) 99.28%–99.71%), (2) cataract diagnosis (normal lens, cataract or postoperative eye with AUCs of 99.82%, 99.96% and 99.93% for mydriatic-slit lamp mode and AUCs >99% for other capture modes) and (3)detection of referable cataracts (AUCs >91% in all tests). In the real-world tertiary referral pattern, the agent suggested 30.3%  of people be ’referred’, substantially increasing the ophthalmologist-to-population service ratio by 10.2-fold compared with the traditional pattern. Conclusions: The universal AI platform and multilevel collaborative pattern showed robust diagnostic performance and effective service for cataracts. The context of our AI-based medical referral pattern will be extended to other common disease conditions and resource-intensive situations.

病例报告

以眼科首诊的朗格汉斯细胞组织细胞增生症一例

A case of Langerhans cell histiocytosis first diagnosed in ophthalmology

:652-660
 
患者,男性,1岁9个月。以“发现右眼上、下眼睑肿物25 d”首诊于眼科,要求切除,但经影像学及病理学检查,诊断为多发性朗格汉斯细胞组织细胞增生症,且全身骨骼多处出现溶骨性改变,不符合切除指征。给予多次全身化学治疗后眼部肿物明显变小。该例诊治提醒眼科医生,眼部肿物可由全身系统性疾病引起,不可盲目切除,必要时做进一步检查。术中切除物均建议行病理活组织检查,以免延误治疗。
patient, male, 1year and 9months old, was first diagnosed as “eye tumor” in the ophthalmology department and requested for excision. But it was diagnosed as multiple Langerhans cell histiocytosis (LCH) through imaging and pathological examination ultimately.Bone lytic changes appeared in many parts of the whole body, which did not meet the indication of excision.The tumor was smaller after systemic chemotherapy. The diagnosis and treatment of this case suggests ophthalmologists that eye tumors can be caused by caused by systemic diseases, systemic diseases. During operation, it is recommended to perform pathological biopsy to avoid treatment delay.
综述

眼眶减压术后新发复视的研究进展

Research progress on new diplopia after orbital decompression

:624-632
 
甲状腺相关眼病(thyroid-associated ophthalmopathy,TAO),又称Graves眼病,是与甲状腺疾病密切相关的一种器官特异性自身免疫性疾病。眼球突出是TAO的主要临床表现之一,也是临床上多数患者就诊的原因。眼球突出一方面会影响美观,另一方面可因眼睑闭合不全导致暴露性角膜炎或因眼眶压力增大导致压迫性视神经病变。眼眶减压术用于重度TAO已有过百年历史,从最早经外眦皮肤切开的传统外部切口入路进行骨性眼眶减压及脂肪减压到内镜下经鼻入路眼眶减压术,其安全性和有效性均已得到肯定。术后复视是眼眶减压术常见的并发症。近年来,随着眼眶减压术的发展,其越来越多地用于美容目的以矫正眼球突出。然而术后的新发复视仍然是困扰众多相关眼科医疗工作者的难题。近年来,多项研究对术后新发复视的相关因素进行了探讨,并由此对眼眶减压术进行改良,在对术后新发复视的减少方面取得不同程度的进展。该文对眼眶减压术后新发复视的研究进展进行综述,旨在促进专科医生更精准地开展TAO的手术,进而提高手术患者术后的生活质量及手术满意度。
Thyroid-associated ophthalmopathy (TAO), known as Graves’orbitopathy, is an organ specific autoimmune disease closely related to thyroid diseases. Exophthalmos is one of the main clinical manifestations of thyroid related ophthalmopathy and is also the reason for most patients seeking medical atention in clinical practice.Eyeball protrusion can afect aesthetics on the one hand, and on the other hand, it can lead to exposed keratitis due to incomplete closure of the eyelids or compressive optic neuropathy due to increased orbital pressure.Orbital decompression has been used to treat severe TAO that threatens vision for over 100 years, and its safety and efectiveness have been confrmed.However, postoperative new diplopia remains a challenge for many ophthalmic medical workers.In recent years, many studies have explored the relevant factors of postoperative new diplopia, and improved the surgery, achieving varying degrees of progress in reducing postoperative new diplopia.Tis article reviews the research progress of new diplopia afer orbital decompression, aiming to promote more accurate surgery for thyroid related eye diseases by specialized doctors.


Review Article

The status quo and advances in categorization of congenital cataract

The status quo and advances in categorization of congenital cataract

:56-66
 

Congenital cataract (CC) is one of the most common causes of pediatric visual impairment. As our understanding of CC's etiology, clinical manifestations, and pathogenic genes deepens,various CC categorization systems based on diferent classifcation criteria have been proposed. Regrettably, the application of the CC category in clinical practice and scientifc research is limited. It is challenging to obtain preciseinformation that could guide the timely treatment decision-making for pediatric cataract patients or predict their prognosis from a specific CC classification. This review aims to discuss the statusquo of CC categorization systems and the potential directions for future research in this field, focusingon categorization principles and scientific application in clinical practice. Additionally, it aims to propose the potential directions for future research in this domain.

Congenital cataract (CC) is one of the most common causes of pediatric visual impairment. As our understanding of CC's etiology, clinical manifestations, and pathogenic genes deepens,various CC categorization systems based on diferent classifcation criteria have been proposed. Regrettably, the application of the CC category in clinical practice and scientifc research is limited. It is challenging to obtain preciseinformation that could guide the timely treatment decision-making for pediatric cataract patients or predict their prognosis from a specific CC classification. This review aims to discuss the statusquo of CC categorization systems and the potential directions for future research in this field, focusingon categorization principles and scientific application in clinical practice. Additionally, it aims to propose the potential directions for future research in this domain.

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
    浏览
  • 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
    浏览
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