综述

神经退行性疾病的眼部病理改变

Ocular pathological changes in neurodegenerative diseases

:225-238
 
视网膜是中枢神经系统的一部分。在胚胎起源上,视网膜和大脑均由神经管发育而来。因此,许多发生在大脑的神经退行性疾病往往会同时累及视网膜。而神经退行性疾病过程中相关的特征性病理改变,如病理性蛋白聚集和神经血管单元破坏也常能在视网膜组织中被检测到。在一些神经退行性疾病中,眼部的病理改变甚至在临床症状出现之前就已发生;其次视网膜易于观察且局部治疗操作便捷,因此近年来视网膜在中枢神经退行性疾病发病机制研究、早期诊断和新型治疗方式探究等方面备受关注。该文对常见神经退行性疾病的眼部病理改变进行综述,旨在为大脑和视网膜神经退行疾病的发病机制、诊断以及治疗研究提供新的见解。
The retina is a part of the central nervous system. Developmentally, both retina and brain are derived from the neural tube. Therefore, many neurodegenerative diseases that occur in the brain tend to involve both the retina. In the process of neurodegenerative diseases, related characteristic pathological changes, such as pathological protein aggregation, neurovascular unit impairment can often be detected in retinal tissue. In some neurodegenerative diseases, pathological changes in the eye occur even before clinical symptoms appear. In addition, the retina are easy to observe and local treatments are convenient. In recent years, the manifestations of the retina have attracted much attention in the study of pathogenesis, early diagnosis, and new treatments of systemic central neurodegenerative diseases. In this way, this article reviews the ocular pathological changes of common neurodegenerative diseases, aiming to provide new insights into the pathogenesis, diagnosis, and treatment of brain and retinal neurodegenerative diseases.
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.
综述

机器人辅助系统在眼底手术中的应用

Application of robot auxiliary system in fundus surgery

:194-199
 
传统的眼底手术要求眼科医生具备精细的操作技术,但即便拥有再精湛的操作技术,眼底手术还是存在很大的风险性。因此,为了减少手术风险,提高手术质量,对传统眼底手术进行改进是十分必要的。近年来,在我国对于人工智能产业的大力支持之下,应用于各类行业的机器人随之诞生。机器人辅助系统(robot auxiliary system,RAS)在医学领域,特别是眼科学中应用广泛。对近几年RAS应用于眼底手术的案例进行整理总结,并将RAS参与的眼底手术以及传统的眼底手术进行对比,可以发现RAS在眼底手术中的应用可以显著提高手术效率,并降低手术风险。未来RAS的发展趋势可能着重聚焦于与深度学习算法的紧密结合。通过算法对手术中的视野图像进行预测、优化,从而让高精度的眼底手术更加高效、安全。
Traditional fundus surgery requires ophthalmologists to be equipped with sophisticated operating techniques, but even with the most sophisticated operating techniques, fundus surgery still has great risks. Therefore, in order to reduce the risk of surgery and improve the quality of surgery, it is very necessary to improve the traditional fundus surgery. In recent years, with China’s strong support for the artificial intelligence industry, robots used in various industries have been born. Robot auxiliary system (RAS) is widely used in the medical field, especially in ophthalmology. By summarizing the cases of fundus surgery with RAS in recent years and comparing the fundus surgery involving RAS with traditional fundus surgery, it can be found that the application of RAS in fundus surgery can significantly improve the efficiency of surgery and reduce the risk of surgery. The future development trend of RAS may focus on the close integration with deep learning algorithms, which can predict and optimize the field of view images during surgery so that high-precision fundus surgery can be more efficient and safer.
论著

某综合性医院 2023—2024 年眼科用药分析—基于合理用药平台提高眼科处方合格率

Analysis of ophthalmic drug utilization in hospitals from 2023 to 2024: enhancing the qualification rate of ophthalmic prescriptions through a rational drug use platform

:538-547
 
目的:分析吉林大学白求恩第二医院2023—2024年眼科门诊处方用药情况,为提高医院眼科门诊的合理用药水平,优化处方前置审核规则提供依据,加强对药品合理使用的管控手段。方法:使用HYGEA合理用药平台,筛选2023年6月—2024年12月眼科门诊相关处方信息,包括药品使用排名和不合理处方条目,对不合理处方项目进行分类绘制帕累托图,并按照问题条目占比排序并分析主要因素、次要因素和一般因素。最终以设置给药途径为干预手段场景为例,评价合理用药平台对眼科门诊处方合格率的改善情况。 结果:按条件检索,共筛选眼科门诊55 623张处方,不合理处方条目37 760条,2023年度和2024年度发生率分别为43.32%和45.43%;绘制帕累托图结果显示,2023年影响处方合格率的主要因素为适应证规则,一般因素为给药途径、剂量限制、疗程限制和特殊人群;2024年影响处方合格率的主要因素为适应证规则,次要因素为重复用药,一般因素为给药途径、疗程限制、剂量限制、特殊人群、禁忌证和相互作用;通过干预给药途径设置规则后,不合格率从20.11%减少至2.53%,提高了处方合格率(P<0.001)。结论:合理用药平台可以通过设置规则,显著减少开具处方的错误,提高处方合格率。
Objective: To analyze prescription drug use in the ophthalmology clinic of the Second Norman Bethune Hospital of Jilin University from 2023-2024 ,promote rational drug use in the ophthalmology outpatient department  provide a basis for optimizing pre-prescription review rules, and strengthen rational drug use management. Methods: By utilizing the HYGEA rational drug use platform, we screened prescription data from the ophthalmology outpatient department spanning from June 2023 to December 2024. This data encompassed drug usage rankings and items related to irrational prescriptions. We categorized the irrational items and constructed a Pareto chart to rank and analyze the primary, secondary, and general contributing factors. Taking the intervention scenario of adjusting administration route settings as an example, we evaluated the platform's impact on enhancing prescription compliance rates. Results: A total of 55,623 ophthalmology outpatient prescriptions were screened, revealing 37,760 irrational prescriptions. This irrational prescription rates were 43.32% in 2023 and 45.43% in 2024. Pareto analysis revealed that in 2023, the main factor influencing prescription compliance was indication rules, while general factors included administration route, dosage limits, treatment duration limits, and special populations. In 2024, indication rules still constituted the primary factor, with duplicate prescriptions emerging as secondary factors. General factors encompassed administration route, treatment duration limits, dosage limits, special populations, contraindications, and drug interactions. After implementing intervention rules for administration routes, the unreasonable rate dropped from 20.11% to 2.53%. This significantly rectified erroneous administration routes and improved prescription compliance (P < 0.001). Conclusions: The rational drug use platform can significantly reduce prescription errors and enhance prescription compliance through rule-based interventions.
病例研究

视盘内出血伴视盘旁视网膜下出血:一例病例报告并文献复习

Intrapapillary hemorrhage with adjacent peripapillary subretinal hemorrhage: a case report and literature review

:622-630
 
视盘内出血伴视盘旁视网膜下出血(intrapapillary hemorrhage with adjacent peripapillary subretinal hemorrhage, IHAPSH)的病例报道较为少见。此病好发于患有轻、中度近视的中青年,且伴有视盘向倾斜或小视盘的患者,具有自限性,视力预后良好,无后遗症,而且很少复发。IHAPSH的眼底表现为视盘内出血、视盘旁视网膜下出血,严重者可出现玻璃体积血。文章报道一例IHAPSH,患者为26岁中度近视女性,主要症状为左眼无痛性视力下降伴眼前黑影飘动6 d。双眼最佳矫正视力均为1.0。眼底检查发现双眼视盘偏小,呈倾斜位,右眼视盘鼻侧见红色视网膜下出血灶;左眼视盘内及视盘鼻侧、上方、颞上方视网膜浅层出血,视盘鼻侧见边界清晰的新月形红色视网膜下出血。未进行特殊治疗,2个月后出血完全吸收。此病病因复杂多样,需与多种眼底疾病相鉴别,及时行眼科相关检查以排除其他原因导致的视盘水肿、视盘出血。文章通过文献回顾,总结其临床特征、发病机制、诊断、鉴别诊断、治疗及预后。
Intrapapillary hemorrhage with adjacent peripapillary subretinal hemorrhage (IHAPSH) is rarely reported. IHAPSH commonly affects young myopic eyes with tilted optic discs and spontaneously resolves without treatment, with an excellent prognosis for vision recovery and very rarely recur. The fundus manifestations of IHAPSH are intrapapillary hemorrhage, peripapillary subretinal hemorrhage, or even with vitreous bleeding. An 26-year-old female with mild myopia presented with symptoms of blurry vision and black filamentous floaters for 6 days. Her BCVA was 1.0 in both eyes. Fundus examination showed that both discs appear small, and elevated in the nasal regions. Intrapapillary hemorrhage, peripapillary subretinal hemorrhage and vitreous hemorrhage were observed in the left eye, while only peripapillary subretinal hemorrhage was seen in the right eye. The hemorrhage was resolved spontaneously without any complication after 2 months. The etiology of IHAPSH is complex, and it should be differentiated from other causes of papilledema and disc hemorrhage. The clinical characteristics, pathogenesis, diagnosis, differential diagnosis, treatment and prognosis were summarized through the literature review.
眼科麻醉专题

可弯曲喉罩在经鼻内镜眼科日间手术中的应用观察

Application of flexible laryngeal mask in endoscopic ophthalmic day surgery

:547-553
 
目的:探究可弯曲喉罩在经鼻内镜眼科日间手术中应用的安全性。方法:收集2023年1月—2024年1月在全身麻醉(全麻)下行经鼻内镜眼科日间手术成年患者资料,分析可弯曲喉罩使用的成功率,观察患者入室时、插管后、手术开始时、手术结束时的血流动力学变化情况;并记录喉罩置入后、手术开始5 min、手术开始30 min和手术结束时的呼吸参数及患者在麻醉恢复室(post-anesthesia care unit,PACU的停留期间的并发症。结果:共635例患者纳入分析,其中619例患者选用喉罩,607例患者喉罩置入成功,成功率98.1%,喉罩置入失败12例,均为诱导期间置入失败,占1.9%,无术中发生喉罩通气失败改气管插管病例。喉罩通气能满足经鼻内镜手术需求,表现为各时点通气量无显著变化及平稳的心率和平均动脉压。患者均顺利复苏,PACU停留时间为(34.6±11.2) min,喉罩拔除时间为(14.3±4.3) min,无二次气管内插管事件发生。结论:置入成功的可弯曲喉罩可安全应用在经鼻内镜眼科日间全麻手术中。
Objective: To investigate the safety of flexible laryngeal masks in the application of endoscopic ophthalmic ambulatory surgery. Methods: Data of adult patients undergoing endoscopic day ophthalmic surgery under general anesthesia from January 2023 to January 2024 were collected; the changes in hemodynamics at T1 (entry into the operating room), T2 (after intubation), T3 (before surgery), and T6 (after surgery) time points and the respiratory parameters at T2 (after intubation), T4 (5 minutes after surgery), T5 (30 minutes after surgery), and T6 (after surgery) time points were analyzed; meanwhile, the complications during the PACU stay were also analyzed. Results: A total of 635 patients were included in the retrospective analysis, of whom 619 patients were initially used FLMA, FLMA were successfully inserted in 607 patients with a rate of 98.1% while 12 patients suffered insertion failure during the period of anesthesia induction. Importantly, none of patients displayed FLMA ventilation failure and required tracheal intubation during the period of surgery. General anesthesia via FLMA ventilation can provide high quality of surgical field for endoscopic ophthalmic surgery, as evidenced by stable heart rates and mean arterial pressure and no significant change in minute ventilation at each time points. All patients recovered uneventfully with a PACU stay time of 34.6±11.2 min and FLMA removal time of (14.3±4.3) min. None of patients exhibited subsequently endotracheal intubation after FLMA removal. Conclusion: FLMA with successful placement can be safely used for endoscopic ophthalmic ambulatory surgery under general anesthesia.
百年校庆

托珠单抗调控角膜碱烧伤后修复的研究

Study on the regulation of tocilizumab on corneal repair after alkali burns

:489-500
 
目的:评估外用白介素(Interleukin, IL)-6特异性抑制剂托珠单抗滴眼液在调控角膜碱烧伤后修复的安全性和有效性。方法:6只角膜假烧伤小鼠局部使用托珠单抗滴眼(2.5 mg/mL)和6只角膜假烧伤小鼠局部使用生理盐水滴眼,分别作为实验组和空白组以评估托珠单抗滴眼液的安全性。30只碱烧伤小鼠,按照1∶1随机分配到治疗组和对照组,治疗组使用托珠单抗滴眼液滴眼,对照组使用生理盐水,每日6次,连续用14 d。通过前段光学相干断层扫描观察虹膜前粘连、角膜后弹力层脱离及角膜水肿,在体视显微镜下检查角膜瘢痕形成及上皮伤口愈合。在角膜切片上评估IL-6定位、肌成纤维细胞、免疫细胞浸润和角膜上皮化生。在角膜铺片上评估角膜新生血管和新生淋巴管面积。通过实时荧光定量聚合酶链式反应(quantitative real-time polymerase chain reaction, qRT-PCR)方法检测小鼠角膜 IL-6的表达水平。果:对未进行碱烧伤的角膜使用托珠单抗治疗未观察到明显的角膜结构的损伤。角膜碱烧伤后可见角膜结构的破坏,角膜瘢痕形成并伴有角膜上皮伤口的延迟愈合。使用托珠单抗治疗后,虹膜前粘连的发生率从86.67%下降至20%(P <0.01),角膜后弹力层脱离的发生率从93.33%下降至53.33%(P <0.05),角膜厚度小于对照组[(100.03±15.73)μ m vs. (207.02±56.30)μ mP<0.001],角膜混浊评分从对照组的3.76±0.44下降到治疗组的1.94±0.83(<0.001),治疗组在第5天(<0.05)、第10天(P <0.001)和第14天(<0.001)的上皮愈合率高于对照组。角膜碱烧伤后可见IL-6大量分布于角膜全层,且可见大量肌成纤维细胞形成及免疫细胞浸润,托珠单抗治疗后抑制了IL-6的表达(下降77.5%,P <0.05),肌成纤维细胞数量从每视野(91.44±65.60)个减少至(12.89±10.51)个(P <0.01),免疫细胞的数量从每视野(60.30±28.71)个细胞减少至每视野(6.80±3.82)个细胞(P <0.001)。此外,托珠单抗还减少角膜切片中每视野的杯状细胞数目由(11.3±5.29)个减少至(2.0±1.90个)(P <0.01),并减少角膜新生血管和新生淋巴管的形成(分别减少了76.86%和71.16%,均P <0.001)。结论:局部使用托珠单抗抑制IL-6未见明显角膜毒性,且可以调控角膜碱烧伤后的修复。
Objective: To evaluate the safety and effect of topical IL-6 inhibitor tocilizumab eye drops in regulating corneal alkali burn repair. Methods: Six mice without corneal burns were locally treated with tocilizumab eye drops (2.5 mg/mL) and six mice with corneal pseudo burn were treated with saline, respectively, as experimental and blank groups to evaluate the safety of tocilizumab eye drops. 30 alkali burned mice were randomly divided into a treatment group and a control group in a 1:1 ratio. The treatment group received tocilizumab eye drops, while the control group received physiological saline solution 6 times per day for 14 days. Observe the anterior adhesion of the iris, detachment of the Descemet membrane, and corneal edema through anterior segment optical coherence tomography (AS-OCT), and examine corneal scarring and epithelial wound healing under a stereomicroscope. Evaluate IL-6 localization, myofibroblasts, immune cell infiltration, and corneal epithelial metaplasia on corneal sections. Evaluate corneal neovascularization and neovascularization area by whole-mount cornea staining. Detect the expression level of IL-6 in mouse cornea by qRT-PCR. Results: No significant damage to the corneal structure was observed in the treatment of unburned corneas with tocilizumab. After corneal alkali burns, the corneal structure was damaged, corneal scarring was formed, and delayed healing of corneal epithelial wounds was observed.After treatment with tocilizumab, the incidence of anterior synechia of the iris significantly decreased from 86.67% to 20% (P <0.01), the incidence of Descemet membrane detachment decreased from 93.33% to 53.33% (P <0.05), the corneal thickness was significantly less than that of the control group (100.03±15.73) μ m vs. (207.02±56.30)μ m (P <0.001), the corneal opacity score decreased from 3.76±0.44 in the control group to 1.94±0.83 in the treatment group (P <0.001), and the epithelial healing rate in the treatment group was significantly higher than that in the control group on day 5 (P <0.05), day 10 (P <0.001), and day 14 (P <0.001).After corneal alkali burns, IL-6 was distributed throughout the corneal layer, and a large number of myofibroblasts and immune cells were observed. After treatment with tocilizumab, the expression of IL-6 was inhibited (decreased by 77.5%, P <0.05), the number of myofibroblasts decreased from (91.44±65.60) per field to (12.89±10.51) per field (P <0.01), and the number of immune cells decreased from (60.30±28.71) cells per field to (6.80±3.82) cells per field (P <0.001). In addition, tocilizumab also reduced the number of goblet cells per field in corneal sections (from 11.3±5.29 to 2.0±1.90) (P <0.01), and reduced the formation of corneal neovascularization and neovascular lymphatic vessels (by 76.86% and 71.16%, respectively, both P <0.001). Conclusion: Topical use of tocilizumab to inhibit IL-6 showed no significant corneal toxicity and can regulate the repair of cornea after alkali burns.
BJO专栏

可自动校准距离的智能手机视力测试 APP(WHOeyes) 的真实世界应用

Real world application of a smartphone-based visual acuity test (WHOeyes) with automatic distance calibration

:431-442
 
目的:开发一款可自动校准测试距离的智能手机视力检测APP(WHOeye的iOS版本),并评估其实用性。方法: WHOeyes在经过验证的视力检测APP “V@home”的基础上新增自动距离校准(automatic distance calibration, ADC)功能。研究招募了3组不同年龄(≤20岁、20~40岁、>40岁)的中国受试者,分别使用糖尿病视网膜病变早期治疗研究(Early Treatment Diabetic Retinopathy Study, ETDRS)视力表和WHOeyes进行远距离和近距离的视力检测。ADC功能用于确定WHOeyes的测试距离。红外测距仪用于确定ETDRS的测试距离以及WHOeyes的实际测试距离。通过问卷调查评估用户满意度。结果:WHOeyes ADC确定的实际测试距离在3个年龄组中均与预期测试距离总体上表现出良好的一致性(P > 0.50)。在远距离和近距离视力检测方面,WHOeyes的准确性与ETDRS相当。WHOeyes与ETDRS之间的平均视力差异范围为–0.084 ~ 0.012 logMAR,各组的二次加权卡帕系数(quadratic weighted kappa, QWK)均大于0.75。WHOeyes在近距离和远距离视力检测中的重测信度高,平均差异范围为–0.040 ~ 0.004 logMAR,QWK均大于0.85。问卷调查显示WHOeyes具有较好的用户体验和接受度。结论:与金标准ETDRS视力表方法相比,WHOeyes测试距离较为准确,可以提供准确的远距离和近距离视力测量结果。
Background: To develop and assess usability of a smartphone-based visual acuity (VA) test with an automatic distance calibration (ADC) function, the iOS version of WHOeyes. Methods: The WHOeyes was an upgraded version with a distinct feature of ADC of an existing validated VA testing APP called V@home. Three groups of Chinese participants with different ages (≤20, 20-40, >40 years) were recruited for distance and near VA testing using both an Early Treatment Diabetic Retinopathy Study (ETDRS) chart and the WHOeyes. The ADC function would determine the testing distance. Infrared rangefinder was used to determine the testing distance for the ETDRS, and actual testing distance for the WHOeyes. A questionnaire-based interview was administered to assess satisfaction. Results: The actual testing distance determined by the WHOeyes ADC showed an overall good agreement with the desired testing distance in all three age groups (p > 0.50). Regarding the distance and near VA testing, the accuracy of WHOeyes was equivalent to ETDRS. The mean difference between the WHOeyes and ETDRS ranged from -0.084 to 0.012 logMAR, and the quadratic weighted kappa (QWK) values were greater than 0.75 across all groups. The test-retest reliability of WHOeyes was high for both near and distance VA, with a mean difference ranging from -0.040 to 0.004 logMAR and QWK all greater than 0.85. The questionnaire revealed an excellent user experience and acceptance of WHOeyes. Conclusion: WHOeyes could provide accurate measurement of the testing distance as well as the distance and near VA when compared to the gold standard ETDRS chart.
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.
综述

小梁网泵衰竭在青光眼发病中的作用机制的研究进展

Research progress on the mechanism of trabecular meshwork pump failure in the pathogenesis of glaucoma

:325-331
 
青光眼是一组以视盘萎缩凹陷、视野缺损以及视力下降为共同特征的视神经退行性疾病,也是世界首位不可逆性致盲眼病,导致患者生活质量降低、引起极大卫生经济负担。但其发病机制尚不明确,促进房水排出从而降低眼内压仍是目前减缓疾病进展的唯一治疗手段。房水排出的主要途径是经由小梁网进入Schlemm's管最后汇入巩膜外静脉,因此小梁网在调节房水排出以及平衡眼内压方面发挥重要作用。近年来,体内以及体外房水排出测量技术和小梁网成像技术不断突破,众多研究表明小梁网存在压力依赖的节律性搏动,在房水的脉冲式排出中起到关键作用,但在青光眼中这种搏动随疾病的进展减弱甚至消失。文章以小梁网的泵理论为核心,总结青光眼中房水排出的最新研究进展,并从恢复小梁网功能的角度出发探索可能有效的治疗策略,为青光眼的临床诊治提供新的思路。
Glaucoma, a group of optic nerve degenerative diseases, is characterized by papillary atrophy, visual field defects, and decreased vision. It is also the leading cause of irreversible blindness worldwide, significantly reducing patients’ the quality of life of patients and posing considerable health economic burdens. However, the pathogenesis of glaucoma remains unclear, and promoting aqueous humor outflow to reduce intraocular pressure is the only treatment option available to slow disease progression. The main pathway for aqueous humor outflow is through the trabecular meshwork into Schlemm's canal and finally into the episcleral veins, highlighting the crucial role of the trabecular meshwork in regulating aqueous humor outflow and maintaining intraocular pressure balance. In recent years, there have been notable breakthroughs in in vivo and in vitro aqueous humor outflow measurement techniques and trabecular meshwork imaging technologies.Many studies suggest that the trabecular meshwork exhibits pressure-dependent rhythmic pulsation, playing a crucial role in the pulse-like outflow of aqueous humor. Unfortunately, in glaucoma, this pulsation weakens or even disappears as the disease progresses. This article focuses on the trabecular meshwork's pump theory and summarizes the latest research progress in aqueous humor outflow in glaucoma, exploring potential effective therapeutic strategies aimed at restoring trabecular meshwork function. This provides new insights for the clinical diagnosis and treatment of glaucoma.
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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