目的：调查角膜塑形镜对近视儿童脉络膜厚度和脉络膜轮廓的长期影响。方法：受试者来自一项2年的随机对照试验。研究对象为年龄8~12岁、等效球镜在-1.00~-6.00 D的儿童(n=80)，这些研究对象被随机分配到对照组(n=40)和角膜塑形镜组(n=40)。本研究在基线和1、6、12、18、24个月的随访中收集光学相干断层扫描图像(optical coherence tomography,OCT)，然后基于OCT图像计算脉络膜厚度和脉络膜轮廓。在这些随访点也同时测量了眼轴长度(axial length,AL)和其他眼生物学参数。结果：在2年内，对照组的脉络膜厚度随时间变薄，脉络膜轮廓变得更加后凸(均P<0.001)。角膜塑形镜可以改善脉络膜厚度(均P<0.001)，并在所有随访中维持脉络膜轮廓不后凸(均P<0.05)。在角膜塑形镜组中，脉络膜轮廓在颞侧的变化小于鼻侧(P=0.008)，而脉络膜厚度在颞侧以黄斑中心凹为中心、直径3 mm线性扫描区域的增厚更明显(P<0.001)。2年内脉络膜厚度的变化与对照组中2年内AL变化呈负相关(r=-0.52，P<0.001)，然而，这一规律被角膜塑形镜打破(r=-0.05 P=0.342)。在多变量回归模型中校正其他变量后，角膜塑形镜对脉络膜厚度的影响是稳定的。结论：角膜塑形镜可以改善脉络膜厚度并维持脉络膜轮廓，但这种效果在长期内趋于减弱。

Objective: To investigate the long-term effect of orthokeratology on the choroidal thickness and choroidal contour in myopic children. Methods:Subjects were from a conducted 2-year Randomized Clinical Trial. Children (n=80) aged 8-12 years with spherical equivalent refraction of -1.00 to -6.00 D were randomly assigned to the control group (n=40) and ortho-k group (n=40). OCT images were collected at the baseline, 1-, 6-, 12-, 18-, and 24-month visits, then the choroidal thickness and choroid contour were calculated. Axial length (AL) and other ocular biometrics were also measured. Results: During two years, in the control group, the choroidal thickness became thinning and the choroidal contour became prolate with time at all visits (all P<0.001). Ortho-k can improve the choroidal thickness (all P<0.001) and maintain the choroidal contour at all visits (all P<0.05). In the ortho-k group, the choroidal contour was less changed in the temporal than nasal (P=0.008), and the choroidal thickness was more thickening in the temporal 3 mm (P<0.001). Two-year change in choroidal thickness was significantly associated with the two-year AL change in the control group (r=-0.52, P<0.001), however, this trend was broken by ortho-k (r=-0.05, P=0.342). After being adjusted by other variables in the multivariable regression model, the effect of ortho-k on choroidal thickness was stable. Conclusions: In a short term, ortho-k can improve the choroidal thickness and maintain the choroidal contour, but this effect diminished in a long term. Further study with larger sample size and longer follow-up is warranted to refine this issue.

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：探讨越橘提取物对视网膜色素上皮(retinal pigment epithelial,RPE)细胞氧化损伤和血管生成的抑制作用。方法：① 将人RPE细胞(ARPE-19)分为对照组、模型组、越橘提取物组，模型组给予0.5 mmol/L3-吗啉代亚胺 (3 morpholinosydnonimine,SIN-1)处理24 h，越橘提取物组给予10ng/mL越橘提取物处理1h 后，再给予0.5 mmol/L SIN-1处理24 h。细胞活性检测法(Cell Counting Kit-8,CCK-8)测定各组细胞活性，流式细胞术检测细胞活性氧(reactive oxygen species,ROS)水平。②将人脐静脉内皮细胞(human umbilical vein endothelial cells,HUVEC)分为对照组、模型组、越橘提取物组，模型组给予10 ng/mLVEGF处理8 h，越橘提取物组给予10 ng/mL越橘提取物处理12 h后，再给予10 ng/mLVEGF处理8 h。划痕实验和Transwell实验检测细胞迁移和侵袭，管腔形成实验检测细胞血管生成情况。结果：①越橘提取物在质量浓度≤10 ng/mL对 ARPE-19细胞无明显毒性。给予SIN-1处理后，ARPE-19细胞活性明显降低，而预孵10 ng/mL越橘提取物

可使细胞活性恢复接近至正常(P<0.001)，后续实验均选用该浓度。同时，越橘提取物可降低SIN-1诱导的ARPE-19细胞内ROS水平(P<0.0001)。②给予VEGF处理后，HUVEC细胞迁移和侵袭能力增强，而预孵越橘提取物可使细胞迁移和侵袭能力减弱(P<0.0010)。同时，越橘提取物可抑制VEGF诱导的HUVEC细胞小管形成(P<0.0001)。结论：越橘提取物具有较强的抗氧化能力和抗血管生成活性，为其作为潜在治疗年龄相关性黄斑变性治疗药物提供了科学依据。

Objective: To investigate the inhibitory effects of bilberry extract on oxidative damage and angiogenesis in retinal pigment epithelial (RPE) cells. Methods:  Human RPE cells (ARPE-19) were divided into control, model and bilberry extract groups. The model group was treated with 0.5 mmol/L SIN-1 for 24 h, and the bilberry extract group was treated with 10ng/bilberry extract for 1 hour, followed by 0.5mmol/L SIN-1 for 24 h. Cell viability was measured by CCK-8. Level of reactive oxygen species (ROS) was determined using flow cytometry. Human umbilical vein endothelial cells (HUVEC) were divided into three groups, control group, model group and bilberry extract group. The model group was treated with 10ng/mL VEGF for 8 h, and the bilberry extract group was treated with 10 ng/mL bilberry extract for 12 h, followed by 10ng/mLVEGF for 8 h. Cell migration and invasion were measured by wound healing assay and Transwell assay. Cell angiogenesis was determined by tube formation assay. Results: 1. Bilberry extract had no obvious toxicity to ARPE-19 cells(≤10 ng/mL). AfterSIN-1 treatment , the the viability of ARPE-19 cells was significantly reduced, while incubation with 10 ng/ml bilberry extract could restore cell activity to the normal levels(P<0.001). This concentration was selected for subsequent experiments. Additionally, bilberry extract reduced the level of ROS in SIN-1-induced ARPE-19 cells(P<0.0001). VEGF treatment significantly enhanced the migration and invasion of HUVEC, whil epretreatment with bilberry extract attenuated these effects(P<0.0010). Meanwhile, bilberry extract could significantly inhibit VEGF-induced tube formation in HUVEC(P<0.0001). Conclusion: Bilbery extract possess strongantioxidant and anti-angiogenetic activities, suggesting its potential as treatment agent for AMD.

目的：基于我国国情构建科学、简便且高效的眼科急诊预检分诊标准，为眼科医护人员提供高效的眼科急诊预检分诊工具。方法：基于文献查询法、半结构访谈法、德尔菲法及层次分析法确定眼科急诊预检分诊标准内容。通过提取2023年8月1日-2023年8月10日急诊分诊系统及HIMSS电子病历系统数据，分析初次分诊的级别与接诊医生最终诊断的所属级别符合率，对眼科急诊预检分诊标准体系的应用效果进行初步验证。结果：对18名专家进行２轮专家咨询，有效问卷回收率均为100%，专家权威系数均为0.95，肯德尔和谐系数分别为0.5640.117(均P＜0.05)。最终构建的眼科急诊预检分诊标准体系包括3个一级指标、11个二级指标。初步验证显示，该预检分诊标准体系具有92.7%的分诊准确率。结论：本研究构建的眼科急诊预检分诊标准体系结构合理、内容全面，具有科学性及实用性，可为眼科临床急诊预检分诊工作提供准确、有效的分诊工具，有助于提高临床工作效率及预检分诊质量。

Objective: To establish a scientific, simple, and efficient ophthalmic emergency pre-examination triage standard, and provide efficient ophthalmic emergency pre-examination triage tools for ophthalmic staffs, based on national conditions. Methods: With literature search, semi-structured interview, Delphi Method, and Analytic Hierarchy Process, the content of ophthalmic emergency pre-examination and triage standard are confirmed. By extracting data from the emergency triage system and HIMSS electronic medical record system from August 1st, 2023 to August 10th, 2023, the consistency rate between the initial triage level and the final diagnosis level of the attending doctor was analyzed, and the application effect of the ophthalmic emergency pre-examination and triage standard system was preliminarily verified. Results: Two rounds of expert consultation were conducted among 18 experts, all with a 100% effective questionnaire response rate. The expert authority coefficients were 0.95, and the Kendall harmony coefficients were 0.564 and 0.117, respectively (all P<0.05). The final constructed ophthalmic emergency pre-examination triage standard system includes 3 primary indicators and 11 secondary indicators. Through verification, the pre screening triage standard system has a good triage accuracy rate of up to 92.7%. Conclusions: The structure of the ophthalmic emergency pre-examination triage standard system constructed in this study is reasonable, comprehensive, scientific, and practical. It can provide accurate and effective triage tools for ophthalmic clinical emergency pre-examination triage work efficiency, and preexamination triage quality.

目的：分析某三甲眼科专科医院近5年临床诊疗涉及非手术常规血液检验项目的申请检测情况，为眼科医师了解检验辅助诊断概况、专科医院的实验室项目管理和开展新项目提供依据。方法：从中山大学中山眼科中心医学检验信息管理系统导出2018年1月1日至2022年12月31日期间到院申请进行血液检测的12 866例门诊患者的22 453份样本(共94 081项检验项目)相关检验记录。将申请检测科室及专科医师按照中华医学会眼科学分会推荐分为10个亚专科，对疾病诊断和检测项目等资料进行统计分析，采用文字、柱状图及折线图的形式进行描述。结果：5年间申请进行血液检测的12 866例门诊患者，男性患者6 356例(49.4%)，女性患者6 510例(50.6%)。基于首诊眼病诊断分类，排名前三位的眼病分别为眼整形/眼肿瘤病5 214例 (40.5%)、眼底病 3 487例(27.1%)、角膜病1 711例(13.3%)。申请检测样本量从2018年的3 163份增至2022年的5 903份，总体呈上升趋势。从申请的专科医师分析，眼整形/眼眶病专科医师申请单最多，有6 751份(占30.1%)，其中自身免疫性疾病检测所占比例最高，为49.1%，甲状腺疾病相关检测占41.9%；眼免疫专科医师申请检测量为4 214份(占18.8%)，以自身免疫性疾病检测为主占55.7%，感染性项目检测占32.5%；眼底病专科医师申请检测量为3 629份(16.2%)，其中自身免疫性疾病检测和感染性项目检测分别占47.8%和39.6%；角膜病专科医师申请数为1 436份(占6.4%)，其中过敏性疾病检测比例为41.2%。基于一份申请单可同时检测多个项目，眼整形/眼眶专科申请检测总项最多，有33 513项，甲

状腺疾病检测占65.0%；角膜病专科申请16 482项，过敏性疾病检测占83.4%，眼底病专科和眼免疫专科分别为8 794项和8 047项，均以自身免疫性疾病检测为主，分别占42.5%和40.4%。结论：眼科专科医院中非手术常规检验项目在各亚专科的申请数量明显分布不均，项目构成受亚专科疾病特点的影响。眼科实验室应针对性加强非手术常规检测项目的宣传和管理。

Objective: To analyze the application and testing of non-surgical routine blood test items in clinical diagnosis and treatment in a top-tier ophthalmic hospital over the past five years, providing ophthalmologists with insights into the overview of laboratory-assisted diagnosis, laboratory project management in specialized hospitals, and the basis for launching new projects. Methods: Relevant test records of 22,453 samples (totaling 94,081 test items) from 12,866 outpatient patients who applied for blood tests at the Zhongshan Ophthalmic Center of Sun Yat-sen University from January 1, 2018, to December 31, 2022, were retrieved from the medical laboratory information management system. The departments applying for tests and specialist physicians were divided into 10 subspecialties according to the recommendations of the Ophthalmology Branch of the Chinese Medical Association. Statistical analysis was performed on disease diagnosis and test items, and the results were described in the form of text, bar graphs, and line graphs. Results: Among the 12,866 outpatient patients who applied for blood tests over the five-year period, 6,356 (49.4%) were male and 6,510 (50.6%) were female. Based on the classification of first-visit ophthalmic diseases, the top three were ophthalmic plastic surgery/ocular tumor diseases (5,214 cases, 40.5%), fundus diseases (3,487 cases, 27.1%), and corneal diseases (1,711 cases, 13.3%). The number of samples applied for testing increased from 3,163 in 2018 to 5,903 in 2022, showing an overall upward trend. From the perspective of specialist physicians applying for tests, ophthalmic plastic surgery/orbital disease specialists had the highest number of applications, with 6,751 (30.1%), among which autoimmune disease testing accounted for the highest proportion, at 49.1%, and thyroid disease-related testing accounted for 41.9%. The number of applications from ophthalmic immunology specialists was 4,214 (18.8%), with autoimmune disease testing accounting for 55.7% and infectious disease testing accounting for 32.5%. The number of applications from fundus disease specialists was 3,629 (16.2%), with autoimmune disease testing and infectious disease testing accounting for 47.8% and 39.6%, respectively. The number of applications from corneal disease specialists was 1,436 (6.4%), with allergic disease testing accounting for 41.2%. Since multiple tests could be performed on a single application, the ophthalmic plastic surgery/orbital disease subspecialty had the highest total number of tests applied for, with 33,513 tests, of which thyroid disease testing accounted for 65.0%. The corneal disease subspecialty applied for 16,482 tests, with allergic disease testing accounting for 83.4%. The fundus disease subspecialty and ophthalmic immunology subspecialty respectively applied for 8,794 and 8,047 tests, both primarily focused on autoimmune disease testing, accounting for 42.5% and 40.4%, respectively. Conclusions: The number of applications for non-surgical routine test items in ophthalmic specialized hospitals is significantly unevenly distributed among various subspecialties, and the composition of the items is influenced by the characteristics of diseases in each subspecialty. Ophthalmic laboratories should strengthen the promotion and management of non-surgical routine test items in a targeted manner.

航天飞行相关的神经-眼综合征(spaceflight associated neuro-ocular syndrome,SANS)是指宇航员在长时间航天飞行期间和之后观察到的包括视盘水肿、后极部眼球扁平、脉络膜视网膜皱褶和远视飘移等在内的一系列眼部、神经和神经影像学表现，可能会对飞行员造成短期或长期的视力改变、认知影响或其他有害的健康影响，因此，明确SANS的发病机制，进行有效的地面模拟实验及制定对应的缓解对策对未来更远、更久的航天飞行具有重要的意义。目前SANS的发病机制主要有颅内压升高、脑血容量波动与血管重塑、脑和视交叉向上移位、眼淋巴系统流动失衡、细胞毒性水肿、眼眶脂肪肿胀等。国际上研究较多的地面模拟实验为6°头朝下倾斜卧床休息，能够重现SANS的各种表现，包括视神经鞘扩张、视网膜神经层增厚、脉络膜厚度增加和视盘水肿；此外，干浸浴、抛物线飞行等地面模拟实验也观察到了SANS的部分表现。下体负压作为缓解对策能减轻脉络膜增厚和视神经鞘直径增加，正压力护目镜也有望成为应对SANS的有效对策。该文就国内外相关进展进行综述。

Spaceflight associated neuro-ocular syndrome (SANS) refers to a series of ocular, neurological and neuroimaging manifestations observed in astronauts during and after long-term space flight, including optic disc edema, posterior globe flattening, choroid-retinal folds, and hyperopic refractive shift. These effects may have short-term or longterm on vision , cognitionand other aspects of astronauts’ health. Therefore, elucidating the pathogenesis of SANS, conducting effective ground simulation experiments, and developing corresponding mitigation strategies are crucial for enabling deeper and longer-duration space exploration. Current understanding of the pathogenesis of SANSincludes increased intracranial pressure, fluctions in cerebral blood volume and vascular remodeling, upward displacement of the brain and optic chiasm, imbalance in ocular lymphatic system flow, cytotoxic edema, and orbital fat swelling, etc. Among the various ground simulation experimens, the 6 ° head-down tilt bed rest has been extensively studied and has been shown to replicate various manifestations of SANS, such as optic nerve sheath expansion, retinal nerve layer thickening, choroidal thickness increase and optic disc edema. Additionally, dry immersion and parabolic flight have also demonstrated some aspects of SANS during ground simulation experiments.The use of lower body negative pressure has been identified as a potential countermeasure to reduce choroidal thickening and increase in optic nerve sheath diameter. Furthermore, positive pressure goggles are also expected to be an effective strategy for mitigating the effectsof SANS.This article provides a comprehensive review of the relevant advancements in the field of SANS, both domestically and internationally.

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。