BACKGROUND:The functional integrity of human trabecular meshwork cells (HTMCs) is essential for regulating intraocular pressure (IOP). In primary open-angle glaucoma (POAG), pathological stimuli induce oxidative damage and promote excessive extracellular matrix (ECM) deposition in HTMCs, thereby hindering aqueous humor outflow. Salidroside (Sal), a compound with diverse pharmacological activities, has been reported to inhibit oxidative stress and reduce ECM accumulation. This study aimed to investigate whether Sal exerts its antioxidant effects by regulating matrix metalloproteinase 3 (MMP3) expression via the TNF signaling pathway. METHODS:Potential targets of salidroside and glaucoma were predicted using SwissTargetPrediction and GeneCards online databases, and overlapping targets were identified. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed on these intersecting targets. Meanwhile, the glaucoma GEO dataset (GSE27276) was downloaded for differential gene expression analysis, and the results were further compared with the intersecting targets to identify key genes. An oxidative damage model of HTMCs was established using hydrogen peroxide (H₂O₂) induction. Cell viability was assessed using the MTT assay to determine the appropriate H₂O₂ concentration for modeling, as well as the safe dosage and treatment duration of Sal. Oxidative stress markers were measured as follows: superoxide dismutase (SOD) and malondialdehyde (MDA) levels were determined by enzyme-linked immunosorbent assay (ELISA), while reactive oxygen species (ROS) levels were assessed using DCFH-DA staining. Furthermore, the expression of ECM proteins such as collagen type I (COL-I), fibronectin (FN), and laminin (LN), as well as MMP3 and TNF signaling pathway-related proteins, was detected by Western blot and immunofluorescence (IF). Rescue experiments were performed using the TNF inhibitor R7050 and the broad-spectrum MMP inhibitor GM6001. In addition, a rat glaucoma model was established by injecting microbeads into the anterior chamber of SD rats. Intraocular pressure changes were monitored using a TonoLab tonometer. Retinal tissue morphology was observed by hematoxylin-eosin (H&E) staining. Retinal ganglion cell apoptosis was detected by TUNEL assay. The expression of oxidative stress markers and ECM-related proteins in the retina and serum was measured by Western blot and ELISA. RESULTS:A total of 68 intersecting targets were identified from the database analyses. Enrichment analysis indicated that these targets were primarily involved in biological processes such as oxidative stress and ECM regulation, as well as the TNF signaling pathway. Experimental results further demonstrated that Sal significantly increased the viability of H₂O₂-damaged HTMCs and effectively inhibited intracellular oxidative stress and ECM protein expression. Moreover, the TNF signaling pathway inhibitor R7050 enhanced the inhibitory effects of Sal on oxidative stress and ECM deposition in HTMCs. Screening of the GEO database identified MMP3 as a key gene. Western blot results showed that Sal upregulated MMP3 expression in H₂O₂-treated HTMCs. Furthermore, the MMP3 inhibitor GM6001 reversed the protective effects of Sal against oxidative stress and ECM deposition. Interestingly, in the presence of Sal, co-treatment with R7050 and GM6001 revealed that GM6001 reversed the effects of R7050 on oxidative stress and ECM, suggesting that Sal may act through the TNF/MMP3 axis. In vivo experiments further confirmed that Sal effectively reduced IOP in glaucomatous rats, alleviated retinal pathology, and significantly decreased oxidative stress levels and ECM deposition. CONCLUSION:Sal, both in vitro and in vivo, promotes MMP3 expression by inhibiting the activation of the TNF signaling pathway, thereby suppressing ECM deposition and mitigating oxidative damage in trabecular meshwork cells.

Background Diabetic retinopathy is characterized by excessive microvascular proliferation that leads to vitreous hemorrhage, retinal traction, and subsequent visual impairment. Aberrant expression of IGF2BP3 is involved in the pathogenesis of multiple diseases. This study aimed to elucidate the mechanism by which IGF2BP3 mediates diabetic retinopathy by regulating semaphorin-3G (SEMA3G) expression. Results Elevated IGF2BP3 expression was observed in diabetic retinopathy. In vitro, IGF2BP3 overexpression promoted pathological angiogenesis, whereas its knockdown significantly attenuated wound healing, reduced inflammatory cytokine secretion, and suppressed cellular proliferation. A targeted regulatory relationship between IGF2BP3 and SEMA3G mRNA was identified, with IGF2BP3 enhancing SEMA3G mRNA stability. SEMA3G was upregulated in diabetic retinopathy, and its overexpression partially rescued the diabetic retinopathy progression suppressed by IGF2BP3 silencing. In vivo, IGF2BP3 overexpression aggravated histopathological alterations, thereby accelerating diabetic retinopathy development. Conclusions In summary, IGF2BP3 promotes diabetic retinopathy development by enhancing SEMA3G mRNA stability.How to cite: Chen Y, Zhao T, Han M, et al. IGF2BP3 promotes diabetic retinopathy development by enhancing SEMA3G mRNA stability. Electron J Biotechnol 2026;83. https://doi.org/10.1016/j.ejbt.2026.100723.

OBJECTIVE:Cataract causes the greatest number of blindnesses worldwide. This study aims to investigate the role of miR-143 in lens epithelial cells.METHODS:Clustering analysis was conducted to systematically compare miRNA expression levels across cataract and myopia. The levels of miR-143 and Bromodomain containing 2 (BRD2) were determined using real-time quantitative PCR (RT-qPCR) assay in lens epithelial cells. Transwell and wound healing assays were conducted to detect cell invasive and migratory abilities. The regulation relationship between MiR-143 and BRD2 was assessed using dual-luciferase reporter gene assays. BRD2 was knocked down using siRNA-BRD2, and siRNA-BRD2, and miR-143 inhibitors were transfected into cells with lipofectamine 2000.RESULTS:Through retrieving five databases, 2690 miRNAs were selected. Volcano plot results demonstrated that 200 miRNAs were differentially expressed between cataract and myopia, in which 152 miRNAs were upregulated and 48 miRNAs downregulated in myopia compared with cataract. MiR-143 was upregulated in cataract compared with myopia (P<0.05). MiR-143 inhibitor suppressed the proliferation, invasion and migration of lens epithelial cells (all P<0.05). Luciferase reporter assays confirmed that BRD2 was a miR-143 target gene in SRA01/04 cells. Knockdown of BRD2 promoted SRA01/04 cell proliferation, invasion and migration (all P<0.05). In addition, silencing of BRD2 partially reversed the functions of miR-143 inhibitor on proliferation, invasion and migration (all P<0.05).CONCLUSION:MiR-143 suppresses lens epithelial cell proliferation, invasion and migration by regulating BRD2, which may support a novel therapeutic strategy for cataract patients.

OBJECTIVE:As a frequent complication of diabetes mellitus (DM), diabetic retinopathy (DR) is now one of the major causes of blindness. Recent reports have shown that retinal pigment epithelial cell (RPEC) damage plays an essential part in DR development and progression. This work intended to explore the potential effects of Gigantol on high glucose (HG)-stimulated RPEC damage and identify potential mechanisms.METHODS:Cell viability, cell damage, and cell apoptosis were evaluated by CCK-8, lactate dehydrogenase (LDH) and flow cytometry assays. The levels of oxidative stress biomarkers and pro-inflammatory cytokines were assessed using corresponding commercial kits and ELISA. Additionally, the levels of MTDH and NF-kB signaling pathway-related proteins were detected by western blotting.RESULTS:Gigantol dose-dependently enhanced cell viability and decreased apoptosis in HG-challenged ARPE-19 cells. Also, Gigantol notably relieved oxidative stress and inflammatory responses in ARPE-19 cells under HG conditions. Gigantol dose-dependently suppressed MTDH expression. In addition, MTDH restoration partially counteracted the protective effects of Gigantol on ARPE-19 cells subject to HG treatment. Mechanically, Gigantol inactivated the NF-kB signaling pathway, which was partly restored after MTDH overexpression.CONCLUSION:Our findings suggested that Gigantol protected against HG-induced RPEC damage by inactivating the NF-kB signaling via MTDH inhibition, offering a potent therapeutic drug for DR treatment.

视网膜缺血性损伤(RII)是许多眼底血管性疾病的重要病理基础,其发病机制复杂,常会导致不可逆的视网膜低灌注和视神经细胞功能损伤,从而造成患者严重的视觉障碍.本综述对近年来研究进行总结发现,RII的常见动物模型包括升高眼压法、视神经或血管结扎法、光动力或药物注射诱导法等;其发病机制主要涉及氧自由基损伤、线粒体能量代谢障碍、兴奋性氨基酸毒性作用及细胞凋亡等途径.深入了解RII的动物模型建立方法及潜在发病机制,对全面认识视网膜缺血性疾病并寻求有效的治疗方法具有重要的参考价值.

目的:通过网络药理学和分子对接方法探讨中药"黄芪-当归"治疗年龄相关性黄斑变性(AMD)的作用机制.方法:借助中药系统药理学数据库与分析平台(TCMSP)获取中药黄芪、当归的有效成分与作用靶点,使用Uniport数据库进行基因ID的注释,在GeneCards、OMIM数据库中查找AMD的相关基因.使用Cytoscape 3.7.2将药物-关键有效成分-疾病靶点网络可视化,在String数据库平台构建蛋白质-蛋白质相互作用(PPI)网络,再利用Metascape基因本体(GO)富集分析和京都基因和基因组百科全书(KEGG)通路富集分析,使用AutoDock4.2.6软件对关键靶点蛋白及有效成分进行分子对接验证.结果:通过筛选,得到黄芪-当归有效成分22个,与AMD相关的关键有效成分14个,黄芪-当归与AMD的共同基因靶点52个;PPI中核心基因依次为CASP3、IL6、VEGFA、EGFR、ESR1等;GO功能富集得到1064个条目,生物学过程主要涉及细胞凋亡、对类固醇激素的反应、活性氧代谢、对脂多糖的反应等;KE GG富集分析后得到119条信号通路,与癌症的通路、流体剪切力与动脉粥样硬化、HIF-1信号通路、TNF信号通路、VEGF信号通路等机制相关;分子对接结果表明,核心有效成分可与靶点蛋白形成构象能量较低、结构稳定的对接.结论:"黄芪-当归"治疗AMD具有多成分、多靶点、多通路的特点,为进一步研究AMD的治疗提供了思路.

Objective: To analyze the clinical characteristics of neuromyelitis optical associated optic neuritis (NMO-ON) patients, and to provide reference and basis for the prevention and treatment accordingly. Methods: The medical records of 72 NMO patients with ON as the first clinical manifestation in China-Japan Friendship Hospital from January 2016 to December 2019 were retrospectively analyzed and summarized, including general information, morbidity characteristics, course of disease, comorbid diseases, immunological tests, treatment response and prognosis, etc. Results: Totally 72 NMO-ON patients had a median age of 33 years. The ratio of male to female is about 1:5.54; The median course was 67 months, mainly "relapse-remission". Totally 61.11％ patients were successively involved in both eyes, the median incidence of ON was 2 times, and the median time of the second onset of ON was 3 months. The 1-year and 3-year recurrence rates were 55.56％ and 73.61％, respectively. Around 91.67％ of the patients had the onset of ON alone, and 81.94％ of the patients had monocular involvement. About 19.44％ patients were associated with inducement, the most common was upper respiratory tract infection; 15.28％ patients were associated with systemic immune diseases, most commonly associated with Sjogren's syndrome and thyroid diseases and 75.64％ patients had first visual acuity less than 0.1, aquaporin-4 immunoglobulin G (AQP4-IgG) status (P=0.032, OR =2.55) and onset age (P=0.037, OR=3.93) were independent risk factors for first visual acuity. Up to the last follow-up time, the rate of unilateral blindness was about 48.61％, and the median of unilateral blindness ON was 2 times. Other nervous system involvement occurred in 73.61％ of patients, and spinal cord (61.11％) was the most common site of recurrence. Serum AQP4-IgG was positive in 80.00％ (48/60) of patients. A total of 18 cases (25.00％) were associated with other systemic immune antibodies, most commonly associated with ANA antibody positivity. Conclusions: The first onset of NMO-ON patients is mostly ON alone, with unilateral involvement and high incidence in young and middle-aged women. Bilateral optic nerve involvement and repeated recurrence are common in the long course of disease. AQP4-IgG status and onset age are independent risk factors affecting the visual function of NMO patients for the first onset, and most patients have positive AQP4-IgG serum. Some patients are associated with systemic immune diseases represented by Sjogren's syndrome and thyroid disease, which are at high clinical risk and require early diagnosis and treatment intervention.

目的:分析视神经脊髓炎相关性视神经炎(neuromyelitis optical associated optic neuritis,NMO-ON)患者的临床特点,为防治该类疾病提供参考和依据.方法:对2016年1月～2019年12月就诊于中日友好医院的72例以ON为首发临床表现的NMO患者病历资料进行回顾性分析总结,包括一般资料、发病特点、病程进展、合并疾病、免疫学检验、治疗反应及预后等.结果:72例NMO-ON患者,发病年龄中位数33岁;男女比约为1:5.54;病程中位数67个月,以"复发-缓解"为主.61.11％患者双眼先后累及,ON发病次数中位数为2次,ON二次发作时间中位数是3个月;1、3年复发率分别约55.56％和73.61％;91.67％患者单独ON起病,ON累及单眼者占81.94％;19.44％患者伴诱因,最常见为上呼吸道感染;15.28％患者伴系统性免疫性疾病,最常伴发干燥综合征及甲状腺疾病;75.64％患者首发视力小于0.1,抗水通道蛋白4抗体(aquaporin-4 immunoglobulin G,AQP4-IgG)状态(P=0.032,OR=2.55)和发病年龄(P=0.037,OR=3.93)是影响患者首发视力的独立危险因素;至末次随访时间,单侧致盲率约48.61％,致患者单侧致盲ON发作中位数为2次;73.61％患者出现其他神经系统的累及,脊髓(61.11％)是最常见的复发部位.80.00％(48/60)患者血清AQP4-IgG阳性;18例(25.00％)伴其他系统性免疫性抗体,最常见伴ANA抗体阳性.结论:NMO-ON患者首次发病多ON单独起病,单侧累及,女性中青年高发,漫长的病程多见双侧视神经受累及多次复发,AQP4-IgG状态和发病年龄是影响NMO患者首次发病视功能的独立危险因素,大多数患者AQP4-IgG血清阳性,部分患者伴发以干燥综合征和甲状腺疾病为代表的系统性免疫性疾病,该病临床高危,需要及早进行明确诊断和治疗干预.

Neuromyelitis optica spectrum disorder (NMOSD) is an autoimmune disease characterized by neuro-ophthalmic intercross and humoral immunity.Neuromyelitis optica related optic neuritis (NMO-ON) is often the initial symptom of NMOSD patients, with a high blinding rate, which brought a heavy blow to the quality of life, study, work and other aspects of patients.The discovery of aquaporin-4 immunoglobulin G (AQP4-IgG) has brought significant progress in the pathogenesis, diagnosis and treatment of NMOSD.However, AQP4-IgG is not a universal biomarker of NMOSD.The role of CD4 + T helper (Th) cell related cytokines in the pathogenesis of NMOSD has been increasingly emphasized.This paper reviewed the research results of CD4 + Th cell-related cytokines closely related to the occurrence of NMOSD in recent years, including Th17 cell-related cytokines such as interleukin-6 (IL-6), IL-17, IL-21, Th2 cell-related cytokines such as IL-4, IL-5, IL-13, IL-31, IL-33, and regulatory T cell-related cytokines, etc.to provide new insights for the pathogenesis, diagnosis and treatment strategies of NMOSD or NMO-ON.

目的:探讨鱼腥草滴眼液治疗干眼的成分靶点及作用机制.方法:运用中药系统药理学数据库与分析平台检索收集鱼腥草滴眼液中化学成分并筛选活性成分,多个数据库联用检索查询成分和疾病对应的靶点;利用Cytoscape 3.7.2软件构建"药物-成分-疾病-靶点"网络拓扑图,对成分靶点与疾病靶点进行可视化分析;利用STRING数据库构建蛋白质-蛋白质相互作用(PPI)网络并进行分析;运用Bioconductor数据库R语言软件包进行基因本体(GO)功能富集和京都基因与基因组百科全书(KEGG)通路富集,进一步分析靶点功能及机制通路.结果:共筛选出鱼腥草有效活性成分30个,与干眼的交集靶点128个.根据"药物-成分-疾病-靶点"网络拓扑图,鱼腥草治疗干眼的主要有效成分有23个,包括癸醛、乙酸龙脑酯、山柰酚、槲皮素、芦丁等.根据PPI网络,鱼腥草治疗干眼的潜在作用靶点度值排名前10的有Jun、蛋白激酶B1(Akt1)、丝裂原活化蛋白激酶1(MAPK1)、白细胞介素-6(IL-6)、转录因子p65(RelA)、白细胞介素-8(CXCL8)、血管内皮生长因子A(VEGFA)、表皮生长因子受体(EGFR)、MAPK8和IL-1β.GO分析提示,鱼腥草治疗干眼的关键靶点富集在细胞因子受体结合、受体配体活动、细胞因子活性等功能上;KE GG通路富集分析则显示,鱼腥草治疗干眼涉及了包括糖尿病并发症中的晚期糖基化产物及其受体信号通路、肿瘤坏死因子(TNF)信号通路和IL-17信号通路等在内的多条作用通路.结论:鱼腥草滴眼液主要成分鱼腥草治疗干眼的作用机制可能与抗炎、抑制细胞凋亡等有关.

Objective: To explore the clinical effect of acupuncture combined with traditional Chinese medicine on optic nerve atrophy caused by neuromyelitis optic (NMO). Methods: the patients with optic atrophy caused by NMO with optic neuritis who visited the ophthalmology or neuro-ophthalmology clinic of our hospital from March 2016 to December 2019 were collected. The patients were treated with acupuncture and traditional Chinese medicine for 8 weeks before and after treatment. The best corrected visual acuity and dynamic visual field were tested before treatment, 4 weeks and 8 weeks after treatment, respectively, to evaluate the effect of acupuncture combined with traditional Chinese medicine on the visual function of patients; Results: after 4 weeks of treatment, the visual acuity of 8 eyes improved more than 2 lines, the total effective rate was 91.67％. after 8 weeks of treatment, the visual acuity of 12 eyes improved more than 2 lines, the total effective rate was 100％; after 4 weeks of treatment, the mean defect (MD) and mean sensitivity (MS) of dynamic visual field were improved, but the difference was not statistically significant (MD:t=1.579,P=0.121;MS:t=-1.500,P=0.140); after 8 weeks of treatment, the MD was significantly decreased (t=2.65,P<0.05), and the MS was significantly improved and statistically significant (t=-2.58, P<0.05). Conclusion: the combination of acupuncture and Chinese medicine can significantly improve the visual function of patients with optic atrophy caused by NMO, improve the best corrected visual acuity and dynamic visual field sensitivity, and reduce the visual field defect.

Neuromyelitis optica(NMO)is an inflammatory central nervous system(CNS)astrocytic disease with high incidence, neuro-ophthalmic intercross, and humoral immune-dominated in Asian population. It has attracted much attention due to its high pathogenicity, high risk of recurrence, and poor prognosis. It is difficult for patients with NMO-associated optic neuritis(NMO-ON)to benefit from routine treatment, and they are often left with different degrees of optic nerve atrophy. One limitation of the study of NMO-ON is the deficiency of the experimental model. Therefore, the progress and application of NMO and NMO-ON experimental model are reviewed in this paper, aiming to explore the pathological mechanism and possible treatment of NMO visual impairment.

目的:探讨丹参治疗视网膜静脉阻塞(RVO)的作用机制.方法:采用中药系统药理学数据库与分析平台(TCMSP)检索丹参的有效化学成分,并收集其对应的作用靶点;使用GeneCards数据库检索与RVO相关的靶点;采用ClusterProfiler R软件绘制交集靶点的韦恩图;采用STRING 11.0数据库构建蛋白质-蛋白质相互作用(PPI)网络,采用Cytoscape 3.7.2软件构建"药物-活性成分-疾病-靶蛋白"相互作用网络;采用ClusterProfiler R软件对靶点进行基因本体(GO)和京都基因与基因组百科全书(KEGG)富集分析.结果:得到丹参有效成分41个、药物靶点70个、RVO靶点1705个,最终获得丹参治疗RVO的潜在作用靶点46个,KEGG通路76条.结论:丹参可能通过调控炎症反应、血管生成、凝血过程和细胞凋亡等对RVO发挥治疗作用.

目的:探究针药联合治疗视神经脊髓炎(NMO)所致视神经萎缩的临床疗效.方法:收集2016年3月～2019年12月就诊于本院眼科或者神经眼科门诊的以视神经炎(ON)为主要临床表现的NMO所致视神经萎缩患者21例(24眼),以患者自身治疗前后为对比,纳入后接受针刺和中药治疗8周,分别于治疗前和治疗后4周、8周进行最佳矫正视力和动态视野检测,评价针药联合对患者视功能的影响.结果:24眼治疗4周后有8只眼视力提高≥2行,总有效率91.67％,治疗8周后有12眼视力提高≥2行,总有效率100.00％;治疗4周,患者动态视野平均缺损度(MD)及平均敏感度(MS)较前改善,但与治疗前相比,差异无统计学意义(MD:t=1.579,P=0.121;MS:t=?1.500,P=0.140);治疗8周后患者MD显著下降(t=2.65,P<0.05),MS明显提高(t=?2.58,P<0.05),差异均有统计学意义.结论:针药联合可显著提高以ON为主要表现的NMO所致视神经萎缩患者的视功能,明显提高患者最佳矫正视力和动态视野敏感度,降低患者视野缺损.

Objective: To investigate the possible molecular mechanism of panax notoginseng in the treatment of vitreous hemorrhage (VH). Methods: The active components of Panax notoginseng were screened by TCMSP database and the corresponding targets were collected. Vh-related gene targets were derived from GeneCards and OMIM database, and the target of Panax notoginseng was mapped to disease target genes. STRING database and Cytoscape 3.7.2 software were used to construct the protein-protein interaction (PPI) network diagram and the interaction network of "Pantoginseng - active ingredient - VH-target protein", and the core action target genes were screened out. Finally, gene body (GO) biological process and metabolic pathway enrichment analysis of KEGG were performed on the potential therapeutic targets. Results: We identified 8 active components, 162 active component targets, 1387 VH-related genes and 75 candidate targets for VH. In the "Panax notoginseng - active ingredient-VH-target protein" interaction network, there are 82 nodes in total. The core target genes include AKT1, CASP3, VEGF-A, IL-6 and MMP-9. 143 major enrichment pathways were identified by GO and KEGG enrichment analysis. The key signal pathways include age-RAGE signaling pathway, fluid shear stress and atherosclerosis, etc., and the significant molecular functions include cytokine activity, receptor ligand activity, cytokine receptor binding, etc. Conclusion: The potential molecular mechanism of panax notoquinone in the treatment of VH is closely related to the biological processes of anti-angiogenesis, anti-inflammation, regulation of apoptosis and oxidative stress, and AKT1, CASP3, VEGF-A, IL-6 and MMP-9 may be the core target genes.

目的:探讨三七治疗玻璃体积血(VH)的协同作用机制.方法:采用TCMSP数据库筛选三七的有效成分,并收集其对应的作用靶点;使用GeneCards、OMIM数据库检索筛选与VH相关的基因靶点,并将三七作用靶点与疾病基因进行映射;利用STRING数据库和Cytoscape 3.7.2软件构建蛋白-蛋白相互作用网络图和"药物-活性成分-疾病-靶蛋白"相互作用网络,筛选出核心作用靶基因,最后对潜在治疗靶点进行基因本体(GO)生物过程和KEGG的代谢通路富集分析.结果:筛选出三七主要有效成分8种,涉及162种蛋白.VH的疾病靶点有1387个,其中75个是三七治疗VH的潜在靶点."药物-活性成分-疾病-靶蛋白"相互作用网络中,共包含节点82个,核心作用靶点包括AKT1、CASP3、VEGF-A、IL-6和MMP-9等;通过GO及KEGG富集分析,筛选出与VH主要成分相关的信号通路143条,关键信号通路包括AGE-RAGE信号通路、流体剪切应力与动脉粥样硬化等,作用较大的分子功能是细胞因子活性、受体配体活性、细胞因子受体结合等.结论:网络药理学分析提示,三七治疗VH潜在的分子机制与抗血管生成、抗炎症及调控细胞凋亡和氧化应激等生物学过程密切相关,AKT1、CASP3、VEGF-A、IL-6和MMP-9可能是核心作用靶点.

Retinitis pigmentosa(RP)is a hereditary retinal disease characterized by degeneration of retina rods and cones photoreceptor cells and degeneration of retinal pigment epithelial cells. The age of onset and progression of RP are genetically related and influenced by the environment. Gene therapy uses vectors in delivering therapeutic genes to genetically modify target cells, so as to correct or replace the disease-causing RP genes. This article introduces the research progress of vectors in RP gene therapy, and review the efficacy and safety of gene therapy on five common genotypes(RHO, PDE6B, MERTK, RLBP1, RPGR).

目的 分析并总结视神经脊髓炎谱系疾病患者的临床特点,为临床诊治提供参考依据.方法 回顾性分析中日友好医院神经眼科联合门诊2016年3月至2018年12月收治的75例视神经脊髓炎谱系疾病患者,对患者的一般情况、临床症状特点、实验室检查以及影像学检查结果 进行分析,以及对比水通道蛋白4(aquaporin-4,AQP4)-IgG阳性和AQP4-IgG阴性患者的临床症状异同点.结果 75例患者中,男12例、女63例,男女比例接近为1:5,发病年龄7～77岁,病程1个月～30 a,发病次数1～20次,16例(21.3％)患者起病前有明显诱因,其余59例(78.7％)患者无明显诱因发病.首次发病症状视神经炎发病28例(37.3％),脊髓炎发病18例(24.0％),视神经和脊髓同时受累19例(25.3％),颅内发病10例(13.3％),有19例患者伴随其他疾病,包括干燥综合征、系统性红斑狼疮等;45例(60.0％)患者检测了视神经脊髓炎特异性抗体(AQP4-IgG),其中31例(68.9％)患者呈现AQP4-IgG阳性表现,13例(28.9％)患者呈现AQP4-IgG阴性表现,尚有1例(2.2％)患者呈现髓鞘少突胶质细胞糖蛋白抗体阳性表现.结论 视神经脊髓炎谱系疾病多发于女性,大部分患者无明显诱因起病,复发率较高,首发病症累及视神经为主,其特异性抗体AQP4-IgG阳性患者多见,应予以早期诊断和治疗.

患者女性,65岁,主因“右眼视力下降伴视物变形2周”于2018年10月15日就诊我院眼科门诊.既往体检(-).专科查体:最佳矫正视力(best corrected visual acuity,BCVA):右眼0.5,左眼0.6.眼压:右眼15mmHg,左眼19mmHg.双眼角膜透明,前房中深,右眼瞳孔圆,直径3mm,对光反射灵敏,晶状体皮质楔形混浊,左眼瞳孔畸形,IOL光学区上缘外露.散瞳查眼底:左眼眼底未见明显异常,右眼视盘边清色正,C/D约0.3,视网膜血管大致正常,后极部视网膜表面见玻璃纸样反光.OCT检查显示不完全脱离的玻璃体与黄斑中心凹粘连牵拉,呈“V”字形,中心凹视网膜隆起,未见明显黄斑裂孔、神经上皮脱离等形成(图1,见彩插一).诊断:(1)右眼玻璃体黄斑牵引综合征(vitreomacular traction syndrome,VMTS);(2)双眼屈光不正;(3)右眼老年性白内障(未成熟期);(4)左眼人工晶体眼;(5)左眼瞳孔畸形.