论著

白内障手术患者围手术期非甾体抗炎滴眼液使用合理性分析

Analysis of the rational use of nonsteroidal antiinflammatory eye drops in perioperative patients undergoing cataract surgery

:515-521
 
目的: 探讨白内障手术患者围手术期非甾体抗炎药(non-steroidal anti-inflammatory drugs, NSAIDs)滴眼液应用的合理性,为优化临床用药方案提供依据。方法:采用回顾性研究方法,分析郑州市第二人民医院2024年100例(100眼)行白内障超声乳化并人工晶状体植入手术患者的临床数据,依据药品说明书、《我国白内障围手术期非感染性炎症反应防治专家共识(2015年)》《中国成人白内障摘除手术指南(2023年)》《中国激光角膜屈光手术围手术期用药专家共识(2024年)》等指南/共识制定评价标准,评价NSAIDs滴眼液的用药频次、疗程及术前预防性抗炎处理的规范性。结果:35%的病例存在用药不合理,共发现88项问题,包括用药频次错误(7.96%)、超疗程(22.72%)及术前用药不当(69.32%)。其中,65%糖尿病患者术前未启动NSAIDs预处理,41%非糖尿病患者术前1 d使用NSAIDs;溴芬酸钠滴眼液疗程超过10天者占20.45%,可能增加肝损伤风险。结论:医疗机构应采取积极有效措施,如制定个体化用药方案、加强合理用药培训、开展专项处方点评等,切实促进NSAIDs滴眼液在白内障手术患者围手术期的合理使用,保障患者的用药安全与治疗效果,提高医疗服务质量和患者满意度。
Objective: To investigate the rationality of perioperative application of non-steroidal anti-inflammatory drugs (NSAIDs) eye drops in patients undergoing cataract surgery, thereby providing evidence for optimizing clinical medication protocols. Methods: A retrospective study method was used to analyse the clinical data of 100 patients (100 eyes) who underwent cataract ultrasonoemulsification with IOL implantation in 2024 at the Second People's Hospital of Zhengzhou City, and the evaluation criteria were developed based on the instructions of the medication, the Chinese expert consensus on prevention and management of non-infectious inflammatory responses in the perioperative period of cataract surgery (2015), the Chinese guideline for cataract surgery in adults (2023), and the Chinese expert consensus on the perioperative medication in laser corneal refractive surgery(2024)" and other guidelines/consensus to develop evaluation criteria to evaluate the standardisation of NSAIDs eye drops in terms of frequency of dosing, duration of treatment, and preoperative prophylactic anti-inflammatory treatment. Results: Irrational medication use was identified in 35% of cases, with a total of 88 issues categorized as follows: incorrect dosage frequency (7.96%), prolonged treatment duration (22.72%), and inappropriate preoperative medication (69.32%). Notably, 65% of diabetic patients failed to initiate NSAIDs pretreatment preoperatively as recommended by guidelines, while 41% of non-diabetic patients received NSAIDs one day before surgery. Prolonged use of bromfenac eye drops (>10 days) was observed in 20.45% of cases, potentially increasing the risk of liver injury. Conclusions: Medical institutions should take active and effective measures, such as formulating individualised medication plans, strengthening training on rational use of medication, and carrying out special prescription reviews, etc., to effectively promote the rational use of NSAIDs eye drops in the perioperative period of patients undergoing cataract surgery, to safeguard the safety of patients' use of medication and therapeutic efficacy, and to improve the quality of healthcare services and patients' satisfaction.
论著

葡萄膜恶性黑色素瘤转移相关的非编码RNA表达谱及竞争性内源RNA调控网络分析

Comprehensive analysis of long non-coding RNAs and competing endogenous RNA network associated with uveal melanoma metastasis

:25-35
 
目的:利用生物信息学方法分析与葡萄膜恶性黑色素瘤转移相关的非编码RNA,以及它们作为竞争性内源RNA的作用机制。方法:从癌症基因组图谱(The Cancer Genome Atlas,TCGA)数据库下载80例葡萄膜恶性黑色素瘤患者的RNA测序数据和临床资料,采用edgeR算法分析转移与非转移患者组织中差异表达(differentially expressed,DE)的长链非编码RNA(lncRNA)、微小RNA(miR)和mRNA,并构建lncRNA-miR-mRNA的竞争性内源RNA(competing endogenous RNA,ceRNA)调控网络,基因富集分析和通路分析研究网络中mRNA的生物学功能。Kaplan-Meier生存曲线分析ceRNA网络中核心RNA与生存率的关系。结果:从发生远处转移的葡萄膜恶性黑色素瘤样本中,共鉴定出346个上调的mRNA,118个下调的miR和45个上调的lncRNA。其中67个mRNA,7个miR和30个lncRNA相互组合形成616个ceRNA单元,并形成了一个具有181条边线ceRNA网络。基因富集分析表明:网络中的mRNA富集在肿瘤生成和转移相关的几个基因本体(Gene Ontology)和信号通路。拓扑分析确定了6个核心lncRNA(LINC00861、LINC02421、BHLHE40-AS1、LINC01252、LINC00513和LINC02389)和3个核心mRNA(UNC5D、BCL11B和MTDH)。 所有核心lncRNA、核心mRNA的表达水平和5个miR(miR-221、miR-222、miR-506、miR-507、miR-876)的表达水平均与总体生存率显着相关(均P<0.05)。结论:本研究揭示了几种lncRNA及其相关的ceRNA网络在葡萄膜恶性黑色素瘤转移中的作用,为进一步研究葡萄膜恶性黑色素瘤的发生和/或转移提供了新的方向。
Objective: To elucidate the expression of long non-coding RNAs (lncRNAs) and their roles as competing endogenous RNAs (ceRNAs) in uveal melanoma (UM) metastasis. Methods: RNA sequencing data and clinical information of 80 patients with UM were obtained from The Cancer Genome Atlas (TCGA) database. Differentially expressed (DE) mRNAs, microRNAs (miR), and lncRNAs between metastatic and non-metastatic individuals with UM were screened using the edgeR algorithm. Gene enrichment analysis was conducted for the DE mRNAs. LncRNA-miR-mRNA regulatory triples and a ceRNA network were constructed. Betweenness centrality was used to screen hub genes and lncRNAs for subnetwork analysis. Kaplan-Meier survival analysis was conducted to explore correlations between the expression of hub RNAs and overall survival in the TCGA UM cohort. Results: A total of 346 upregulated mRNAs, 118 downregulated miRs, and 45 upregulated lncRNAs were identified in samples with systemic metastasis. Among them, 67 mRNAs, 7 miRs, and 30 lncRNAs mapped to 616 ceRNA triples, thus forming an interconnected ceRNA network with 181 edges. Gene enrichment analysis revealed that mRNAs in the network were enriched in multiple gene ontology terms and pathways associated with carcinogenesis and metastasis. Topological analysis identified 6 hub lncRNAs (LINC00861, LINC02421, BHLHE40-AS1, LINC01252, LINC00513, and LINC02389) and 3 hub mRNAs (UNC5D, BCL11B, and MTDH). The expression levels of all hub genes and 5 DEmiRs (miR-221, miR-222, miR-506, miR-507, miR-876) were significantly associated with the overall survival probability. Conclusion: This bioinformatic study revealed the functions of several lncRNAs and their associated ceRNA network in UM metastasis. It provides a novel in silicon evidence for future experimental study on the pathogenesis of systemic metastasis in uveal melanoma, especially from the perspective of non-coding RNA.
论著

获得性免疫缺陷综合征合并巨细胞病毒性视网膜炎抗病毒治疗后眼内液特征分析

Analysis of characteristics of intraocular fluid following antiviral treatment for acquired immunodeficiency syndrome complicated by cytomegalovirus retinitis

:893-901
 
目的:探讨获得性免疫缺陷综合征(acquired immune deficiency syndrome, AIDS)合并巨细胞病毒性视网膜炎(cytomegalovirus retinitis,CMVR)抗病毒治疗后眼内液特征,为临床优化治疗方案、评估疗效提供参考。方法:回顾性分析2018年11月—2024年12月广州医科大学附属市八医院收治的49例AIDS合并CMVR患者的临床资料,按治疗方式的不同分为全身用药组(n=23,30眼)及联合组(n=26,30眼),全身用药组予静脉滴注膦甲酸钠全身抗病毒治疗,联合组在此基础上加用玻璃体腔注射更昔洛韦,比较两组的眼内液特征。结果:治疗后两组眼内液CMV核酸载量、白细胞介素(interleukin, IL)-6、IL-8、IL-10、血管内皮生长因子(vascular endothelial growth factor, VEGF)、碱性成纤维细胞生长因子(basic fibroblast growth factor,BFGF)、血管细胞黏附分子(vascular cell adhesion molecule, VCAM)水平低于治疗前,且联合组低于全身用药组(P<0.05);治疗前后两组均未检出单纯疱疹病毒(herpes simplex virus, HSV)、水痘-带状疱疹病毒(varicella-zoster virus, VZV)、爱泼斯坦-巴尔病毒(epstein-barr virus, EBV)、人疱疹病毒6型(human herpesvirus 6, HHV-6)。Spearman秩相关分析显示,房水中CMV核酸载量与IL-6、IL-8、IL-10、VEGF、BFGF、VCAM均呈正相关(P<0.05)。结论:AIDS合并CMVR患者经全身联合局部抗病毒的疗效更佳,可更显著降低眼内液CMV核酸载量及相关炎症、生长因子水平,且房水CMV核酸载量与上述细胞因子水平呈正相关系。
Objective: To investigate the intraocular fluid characteristics of acquired immunodeficiency syndrome (AIDS) complicated with cytomegalovirus retinitis (CMVR) after antiviral treatment. Method: A retrospective analysis was conducted on the clinical data of 49 patients with AIDS and concomitant CMVR admitted to our hospital from November 2018 to December 2024. They were divided into a control group (n=23, 30 eyes) and a combination group (n=26, 30 eyes) according to different treatment methods. The control group received systemic antiviral treatment with intravenous sodium phosphonate, while the combination group received intravitreal injection of ganciclovir (GCV) on this basis. The intraocular fluid characteristics of the two groups were compared. Result: After treatment, the levels of CMV nucleic acid load, interleukin-6, IL-8, IL-10, vascular endothelial growth factor (VEGF), basic fibroblast growth factor (BFGF), and vascular cell adhesion molecule (VCAM) in the intraocular fluid of both groups were lower than before treatment, and the combined group was lower than the control group (P<0.05); No HSV was detected in both groups before and after treatment EBV、VZV、HHV-6。 Spearman correlation analysis showed that the CMV nucleic acid load in aqueous humor was positively correlated with IL-6, IL-8, IL-10, VEGF, BFGF, and VCAM (P<0.05). Conclusion: AIDS patients with CMVR showed better efficacy after systemic and local antiviral treatment, and exhibited significant decreases in CMV nucleic acid load and related cytokines in aqueous humor.
论著

铜绿假单胞菌感染性眼内炎的临床特点及耐药性分析

Clinical characteristics and analysis of antimicrobial resistance in pseudomonas aeruginosa-induced endophthalmitis

:902-909
 

目的:探讨临床分离的铜绿假单胞菌感染所致眼内炎的临床特点及对常用抗菌药物耐药情况,为临床合理使用抗菌药物提供治疗依据。方法:回顾2013年1月—2024年12月在中山大学中山眼科中心确诊感染铜绿假单胞菌的眼内炎患者资料,记录并分析患者临床特点及对常用抗菌药物耐药情况。结果:44例确诊感染铜绿假单胞菌的眼内炎患者,2例患者采取保守治疗,42例患者接受外科手术治疗。其中13例患者行玻璃体腔内注射抗菌药物及玻璃体切割术,10例患者行玻璃体切割术,19例患者行眼球摘除术。治疗后,1例患者视力达到20/400,3例患者视力为指数视力(finger count, FC),9例患者视力为手动视力(hand move, HM),5例患者视力为光感(light perception, LP),26例患者视力无光感(no light perception, NLP)。体外药敏试验显示,铜绿假单胞菌对阿米卡星、美罗培南、妥布霉素敏感度为100.0%;对庆大霉素敏感度为97.5%;对左氧氟沙星、环丙沙星敏感度为95.0%;对头孢吡肟、亚胺培南敏感度为80.0%;对头孢他啶、氧氟沙星敏感度为75.0%;对氯霉素、头孢唑啉、头孢呋辛、头孢曲松及复方磺胺甲噁唑的敏感度均为0%。结论铜绿假单胞菌性眼内炎患者的视力预后较差,眼球摘除率居高不下。铜绿假单胞菌对阿米卡星、美罗培南、妥布霉素表现出较好的敏感性。

Objective: To explore the clinical characteristics and antibiotic resistance patterns of endophthalmitis induced by Pseudomonas aeruginosa at our hospital from January 2013 to December 2024, with the aim of providing evidence to support the rational clinical use of antimicrobial agents. Methods: A retrospective analysis was conducted on patients diagnosed with Pseudomonas aeruginosa endophthalmitis at Zhongshan Ophthalmic Center, Sun Yat-sen University, during the period from January 2013 to December 2024. Clinical features and antibiotic resistance profiles of the patients were documented and analyzed. Results: Among the 44 patients, 2 received conservative treatment. The remaining 42 patients underwent surgical intervention: 13 patients received intravitreal antibiotic injection combined with vitrectomy, 10 patients underwent vitrectomy alone, and 19 patients required enucleation. Post-treatment visual outcomes were as follows: 1 patient achieving 20/400 vision, 3 patients had with finger count (FC) vision, 9 with hand move (HM), 5 patients with light perception (LP), and 26 patients with no light perception (NLP). In vitro drug susceptibility tests revealed that Pseudomonas aeruginosa was 100.0% sensitive to amikacin, meropenem and tobramycin; 97.5% sensitive to gentamicin; 95.0% sensitive to levofloxacin and ciprofloxacin; 80.0% sensitive to cefepime and imipenem; 75.0% sensitive to ceftazidime and ofloxacin; and 0% sensitive to chloramphenicol, cefazolin, cefuroxime, ceftriaxone and cotrimoxazole. Conclusions: The visual prognosis of patients with Pseudomonas aeruginosa endophthalmitis remains poor, with a high rate of enucleation. The pathogen demonstrated favorable susceptibility to amikacin, meropenem, and tobramycin.

综述

区块链在药物临床试验中的应用

Application of blockchain technology in clinical drug trial

:46-49
 
当前,药物临床试验面临着两大难题:数据真实性及相关人员操作规范性。现阶段国内外在药物临床试验方面的监管主要以事后监查为主,在数据质量管理以及操作规划标准的监查方面存在一定的时延性。而区块链通过非对称加密、哈希算法及智能合约等技术,可以在保证受试者隐私信息的前提下,提高政府相关监督机构的监管效率,提升药物临床试验数据管理的透明度;同时,与物联网的紧密结合可以实现对标准操作规范的进一步核查,与人工智能的结合有望实现受试者的自动招募。
Clinical drug trials are confronted with two major issues: first, data authenticity, for instance, if any data falsification is conducted during the whole trial; second, whether the standard of procedure is accordingly conducted throughout the whole trial or not. Currently, both domestic and overseas clinical drug trials are not supervised without delay (ex-post inspection). Blockchain technology can improve the efficiency of Food and Drug Administration and the transparency of trials while the rights and safety of human research subjects are guaranteed by the integrated technology such as chained structure, asymmetry key algorithm, hash algorithm, and smart contract. Furthermore, with the assistance of internet of things (IoT) and artificial intelligence (AI), the actual supervision over the whole trial and automatic recruitment of human research subjects are expected to achieve.
论著

合并人类免疫缺陷病毒感染患者的白内障和年龄相关性白内障中染色体外环状 DNA 的总体特征及差异

Characterisation and differences of extrachromosomal circular DNA in cataract patients: a comparison between those with human immunodeficiency virus infection and age-related cataract patients

:910-919
 
目的:分析染色体外环状DNA(extrachromosomal circular DNA, eccDNA)的分子特征及潜在功能,初步探索eccDNA在合并人类免疫缺陷病毒(human immunodeficiency virus, HIV)感染患者的白内障发病过程中的作用机制。方法:收集4例合并HIV感染的并发性白内障(complicated cataract, CC)患者及性别、年龄与之匹配的4例年龄相关性白内障(age-related cataract, ARC)患者晶状体囊膜,通过提取、滚环扩增及circle-seq对eccDNA进行全长测序,分析比较合并HIV感染的CC患者及ARC患者之间晶状体囊膜eccDNA的数量、长度分布、基因组元件分布及eccDNA相关差异基因功能富集情况。结果:合并HIV感染的CC患者晶状体囊膜中eccDNA数量较ARC患者增多,鸟嘌呤(guanine, G)和胞嘧啶(cytosine,C)碱基所占的比例(GC含量)较ARC患者减少。在CC患者及ARC患者中,eccDNA的长度在1 200 ~1 800 bp均分布最多,CC患者在2 000~2 200 bp之间呈现另一部分高峰,ARC组则在此区间eccDNA丰度极低。CC患者eccDNA来源基因组元件在CpG岛占比低于ARC组。 CC患者组eccDNA差异基因富集的通路多与钙信号通路、Apelin信号通路及cGMP-PKG信号通路相关。结论:合并HIV感染的CC患者与ARC患者晶状体囊膜eccDNA的分子特征存在差异,提示eccDNA可能通过基因表达调控晶状体前囊膜代谢功能影响CC的发生、发展。
Objective: To perform full-length sequencing of extrachromosomal circular DNA (eccDNA) in the lens capsule of patients with human immunodeficiency virus (HIV)-infected complicated cataract (CC) and age-related cataract (ARC). The aim is to analyze the molecular characteristics and potential functions of eccDNA and initially investigate the mechanism by which eccDNA contributes to the pathogenesis of cataract related to HIV infection. Methods: Lens capsules were collected from 4 CC patients who were co-infected with HIV and from ARC patients matched for gender and age. The eccDNA was sequenced following a process that included extraction, rolling circle amplification, and circle-seq. We then analyzed and compared the number, length distribution, genomic element distribution, and enrichment of differential gene functions associated with eccDNA in the lens capsules of CC patients co-infected with HIV and ARC patients. Results: The number of eccDNA molecules in the lens capsule of CC patients co-infected with HIV was significantly higher than that in ARC patients, while the GC content was lower.. In both CC and ARC patients, the majority of eccDNA lengths felll within the range of 1200 to 1800 bp. However, CC patients exhibited an additional peak between 2000 and 2200 bp, where the abundance of eccDNA in the ARC group was extremely low. Regarding genomic elements derived from eccDNA, the proportion in CC patients was lower than that in the ARC group within CpG islands. The pathways associated with differential gene enrichment of eccDNA in CC patients were primarily related to the calcium signaling pathway, Apelin signaling pathway, and cGMP-PKG signaling pathway. Conclusions: There are notable differences in the molecular characteristics of lens capsule eccDNA between CC patients with HIV infection and ARC patients.These finding suggest that eccDNA may influence the onset and progression of CC by regulating the metabolic functions of the anterior lens capsule through gene expression.
论著

基于高通量测序分析鉴别视网膜病变中的神经纤维瘤病

Identification of neurofibromatosis in retinopathy based on high-throughput sequencing analysis

:381-394
 
目的:通过高通量测序分析进行基因诊断,鉴别视网膜病变中的神经纤维瘤病,为其早诊早治提供重要依据。方法:回顾性分析眼遗传病高通量测序数据库中的NF1和NF2基因变异,根据ACMG/AMP指南解析变异致病性;进一步结合患者的临床表型、家族史以及其他检查结果,综合判断明确是否患有神经纤维瘤病,同时进行疾病的进展和随访的研究分析。结果:通过分析不同眼部表型家系的高通量测序结果,共在11例先证者中发现NF1和NF2基因的10个可能致病变异,包括7个NF1变异和3个NF2变异。这11例先证者的初始诊断包括家族性渗出性玻璃体视网膜病变、黄斑/视网膜发育不良、斜视、视网膜色素变性、Coats病和牵牛花综合征等。其中,在1例初诊为家族性渗出性玻璃体视网膜病变的患儿中,检测到3个基因的致病变异,即NF2: c.122G>A/p.(W41*)、RS1: c.520C>T/p.(R174W)和NYX: c.1027C>T/p.(R343C)。随访检查发现,该患儿的复杂眼部表型符合NF2、RS1和NYX致病变异的临床改变,且MRI检查发现双侧前庭神经鞘瘤、脊髓室管膜瘤和多发性神经鞘瘤改变。除该患者外,还有4例患者在随访中发现存在牛奶咖啡斑或雀斑样色素沉着等皮肤改变,1 例合并小脑神经纤维瘤浸润。结论: 高通量测序分析能有效检测出神经纤维瘤病相关基因的变异,有助于筛选非典型表现的神经纤维瘤病,为疾病的早期诊断,尤其是对严重中枢神经系统病变的早期筛查和及时干预,提供了重要依据。
Objective: To identify neurofibromatosis in retinopathy through high-throughput sequencing analysis and provide important indicators for early diagnosis and treatment. Methods: Variants in NF1 and NF2 were selected from in-house high-throughput sequencing, including targeted exome sequencing, exome sequencing and whole genome sequencing, of individuals with different eye conditions. Pathogenic or likely pathogenic variants were assessed according to ACMG/AMP criteria. All the available clinical data, including clinical manifestation, family history and other examination results, were summarized and further analyzed to determine whether neurofibromatosis. Results: Based on the results of in-house high-throughput sequencing, a total of ten pathogenic or likely pathogenic variants in NF1 and NF2 were identified in 11 unrelated cases with various eye conditions, including three NF2 variants in four cases and seven NF1 variants in seven cases. The unrelated cases with NF1 and NF2 variants had initial clinical manifestation similar to familial exudative vitreoretinopathy (FEVR), macular or retinal dystrophy, strabismus, retinitis pigmentosa, Coats disease, or morning glory syndrome. In one of these cases, who was diagnosed as FEVR at the initial visit, three pathogenic variants of three different genes were identified, namely NF2: c.122G>A/p.(W41*), RS1: c.520C>T/p.(R174W) and NYX: c.1027C>T/p.(R343C). Follow-up examination on this case revealed a complex retinopathy, which were consistent with clinical presentations due to pathogenic variants in NF2, RS1, and NYX, as well as bilateral vestibular schwannomas, spinal ependymoma and multiple schwannomas by MRI. In addition to this patient, a follow-up examination on four of the seven cases present Café-au-lait macules or freckling, which could be easily neglected if neurofibromatosis is not realized on the initial visit, while one had neurofibromatosis in cerebellum. Conclusions: Complex retinopathy may present as the initial sign of neurofibromatosis, and high-throughput sequencing analysis for neurofibromatosis related genes contribute to early diagnosis of neurofibromatosis and facilitating early identification of vital systemic complication.
论著

MAB21L2 基因变异致小眼畸形 2 例及 MAB21L1 和 MAB21L2 的基因型 - 表型的系统回顾研究

Two cases of microphthalmia caused by MAB21L2 gene mutation and a systematic review of genotypephenotype associations of MAB21L1 and MAB21L2

:75-83
 
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MAB21L1MAB21L2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.
综述

糖尿病前期和糖尿病视网膜病变临床前期的视网膜改变

Retinal changes in pre-diabetes and pre-clinic diabetes retinopathy

:454-460
 
糖尿病视网膜病变(diabetic retinopathy,DR)是世界范围内劳动年龄人口视力损伤的主要原因。糖尿病前期和DR临床前期患者作为罹患DR的高危人群,在该阶段可发现视网膜神经元形态功能及视网膜微小血管的改变。视网膜及神经纤维层厚度的变化可部分反映视网膜神经元结构改变;色觉、对比敏感度、视野及视觉电生理等变化可反映视网膜神经元功能改变。随着光学相关断层扫描血管成像技术的发展,临床可以检测出DR之前视网膜微血管的改变。此外,许多生物标志物也可以预测和评估DR。由于目前还没有方法可以阻止DR的发生与进展,临床可以通过观察以上视网膜的改变更为及时地发现DR,以降低其患病率,最大限度地减少DR带来的视力损伤。
Diabetes retinopathy (DR) is the main cause of visual impairment in the working population worldwide. Patients with pre-diabetes and pre-clinic diabetic retinopathy are regarded as in high risk group of DR. The changes in morphology and function of renal neurons and retinal micro-vessels can be found in these patients at this stage. The changes of retinal nerve structure can be partly reflected by changes in the thickness of retina and nerve fiber layer. The changes in function of retinal neurons can be reflected by changes in color vision, contrast sensitivity, visual field and visual electrophysiology.With the development of optical coherence tomography angiography, changes in retinal micro-vessels can be observed prior to clinical detection of DR. In addition, many biomarker can also predict and evaluate DR. Since there is no way to prevent the occurrence and progress of DR at present, more attention should be paid in DR by observing the changes inthe retina mentioned above timely, to reduce its incidence and minimize the visual damage caused by DR.
综述

人工智能在眼病筛查和诊断中的研究进展

Research progress of artificial intelligence in screening and diagnosis of eye diseases

:208-213
 
近年来随着人口老龄化的发展、人群用眼方式的改变,现有的眼科医疗资源正越来越难以满足日渐增长的医疗需求,亟需新型的诊疗模式予以补足。眼科人工智能作为眼科领域的新兴元素,在眼病的筛查诊断中发展迅速,主要表现为“眼部图像数据+人工智能”的模式。近年来,随着该模式在白内障、青光眼、糖尿病性视网膜病变(diabetic retinopathy,DR)等常见病中研究的深入,相关技术日渐成熟,表现出了较大的应用优势与应用前景,部分技术甚至成功转化并被逐渐应用于临床。眼科诊疗向智慧医学模式的过渡,有望缓解日益增长的医疗需求与紧缺的医疗资源之间的矛盾,从而提高整体的医疗服务水平。
The development of population aging and changes in the way people use their eyes over the recent years have increasingly challenged the existing ophthalmic medical resources to meet the growing medical needs, thus urgently calling for a novel diagnostic and treatment mode. Despite its status as an emerging sector in ophthalmology, ophthalmic artificial intelligence has developed rapidly in the screening and diagnosis of eye diseases, as can be seen in practices adopting the “eye imaging data + AI” mode. In recent years, with the intensified research on this mode with respect to common diseases such as cataract, glaucoma and diabetic retinopathy, relevant technologies have grown increasingly mature, presenting undeniable application superiority and prospects. Some of the relevant technical achievements have also been successfully transformed for practical usage, and are gradually being applied to clinical practices. Ophthalmic diagnosis and treatment are transitioning toward the era of intelligent medical services, which are expected to reduce the contradictions between the growing medical needs and the shortage of medical resources, as well as ultimately improve the overall experience of medical services.
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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