目的：分析先天性葡萄膜外翻(Congenital ectropion uveae, CEU)继发性青光眼的临床表现、影像学特点和治疗方法。方法：回顾分析就诊于中山大学中山眼科中心诊断为CEU继发性青光眼患者的电子病历资料，收集整理患者的一般情况、视力、眼压、裂隙灯检查、房角镜照相、超声生物显微镜等检查结果，以及手术治疗方式选择和术后随访眼压情况，并结合国内外文献回顾分析总结CEU继发性青光眼的临床特点和诊疗效果。结果：报告两例CEU继发性青光眼患者年龄分别为24岁和11岁，均为男性、单眼发病慢性病程，患眼都为右眼，都不伴有全身异常，最佳矫正视力为手动/40cm-0.16，就诊时平均眼压为37 mmHg，平均中央前房深度为3.45 mm。两例患者查体表现：均角膜透明，瞳孔大小约5-5.5mm，对光反应灵敏，瞳孔缘近360°葡萄膜外翻呈棕褐色，晶状体透明，眼底检查青光眼性视杯凹陷，视网膜平伏。其中24岁患者房角镜检查全周宽角开放，小梁网有色素沉着。超声生物显微镜（ultrasound biomicroscopy, UBM）检查提示右眼虹膜稍向后凹，7点位房角关闭，其余全周房角开放。而11岁患者房角镜检查以及UBM检查均为全周房角关闭。两例患者角膜内皮镜检查均正常。两例患者均诊断为右眼先天性葡萄膜外翻继发性青光眼，眼压高，最大量降眼压药物治疗下不能控制，对24岁患者行小梁切除联合术中使用抗代谢药物、11岁患者行引流阀植入联合术中使用抗代谢药物，术中术后均无明显并发症，至今随访6个月，眼压控制良好。结论：CEU特征性改变为瞳孔缘葡萄膜外翻，常继发青光眼，可表现为开角型、房角发育异常（闭角型），降眼压药物治疗效果有限，通常需要手术治疗。由于CEU继发性青光眼人群以儿童和年轻患者为主，为难治性青光眼，因此抗青光眼术中联合使用抗代谢药物可获得较好的治疗效果。
Objective: To analyze the clinical manifestations, imaging characteristics, and treatment methods of secondary glaucoma associated with congenital ectropion uveae (CEU). Methods: Observational case series and literature review. A retrospective analysis was conducted on the electronic medical records of patients diagnosed with secondary glaucoma due to CEU at the Zhongshan Ophthalmic Center, Sun Yat-sen University, China. Data collected included demographics, visual acuity, intraocular pressure (IOP), slit-lamp examination, gonioscopy, ultrasound biomicroscopy (UBM), and surgical treatment methods. Postoperative IOP were also collected. A literature review was conducted to summarize the clinical characteristics and treatment outcomes of secondary glaucoma due to CEU. Results: Two male patients with secondary glaucoma due to CEU were included, aged 24 and 11 years, respectively. Both patients had a chronic course of disease affecting the right eye, with no systemic abnormalities. The best-corrected visual acuity was hand motion/40 cm to 0.16, and the average IOP at presentation was 37 mmHg, with an average central anterior chamber depth of 3.45 mm. Clinical examination revealed clear corneas, pupils measuring approximately 5-5.5 mm with brisk light reflexes, and nearly 360° of brownish ectropion of the uveae. The lenses were clear, and fundus examination showed glaucomatous optic disc cupping with a normal retina. In the 24-year-old patient, gonioscopy revealed a wide-open angle with trabecular meshwork pigmentation, while UBM indicated slight posterior bowing of the iris and angle closure at the 7 o'clock position. In the 11-year-old patient, both gonioscopy and UBM showed complete angle closure. Corneal endothelial microscopy was normal in both patients. Both were diagnosed with secondary glaucoma due to CEU in the right eye, with elevated IOP that was uncontrolled by maximal medications. The 24-year-old underwent trabeculectomy with intraoperative use of antimetabolites, while the 11-year-old received a drainage valve implantation with antimetabolites. No significant intraoperative or postoperative complications were observed, and IOP was well controlled over a six-month follow-up period. Conclusions: CEU is characterized by ectropion of the uveae and is frequently associated with secondary glaucoma, which may present as open-angle or angle-closure (goniodysgenesis) glaucoma. The effectiveness of IOP-lowering medications is limited, often necessitating surgical intervention. Given that secondary glaucoma due to CEU predominantly affects children and young adults, the use of antimetabolites during glaucoma surgery can yield favorable treatment outcomes.
目的：分析全身麻醉在青光眼日间手术中的应用特点。方法：回顾性收集2023年1月—6月于中山大学中山眼科中心在全身麻醉下接受青光眼日间手术患者71例(全麻组)，并选择同时期在局部麻醉下接受青光眼手术患者154例(局麻组)，同时以年龄为配对因素行倾向评分匹配分析。主要观察指标为患者术后离院时间，并对患者的手术时间、手术前后眼压、视力、中央前房深度、周边前房深度、甘露醇使用情况以及术后较术前眼压降低差值进行分析。结果：与局麻组比较，全麻组患者术后离院时间未有延长(P>0.05)；全麻组患者术前眼压较高(P<0.001)、中央前房深度浅(P=0.018)、周边前房深度浅(P<0.001)；且全麻组患者在术后较术前眼压降低差值更大(P=0.002)。组间术后中央前房深度、术后使用甘露醇者比例及术后视力提高者比例比较差异均无统计学意义(P>0.05)。结论：术前眼部条件较差的青光眼患者能在全身麻醉下完成日间手术，且不延长术后离院时间。
Objective: To analyze the application of general anesthesia in the ambulatory glaucoma surgery. Methods: This retrospective study collected 71 patients who underwent ambulatory glaucoma surgery with general anesthesia at Zhongshan Ophthalmic Center of Sun Yat-sen University from January 2023 to June 2023, and 154 patients who underwent similar glaucoma surgery with local anesthesia during the same period. Age differences between the two groups were balanced by propensity score-matched analysis. The main outcome measures were the patients' post-operative discharge time, and the secondary end points included the duration of surgery, the patients' preoperative and postoperative intraocular pressure (IOP), visual acuity status, central anterior chamber depth, peripheral anterior chamber depth, mannitol use, the difference in IOP reduction after surgery compared to preoperative. Results: After propensity score-matched analysis, as compared with group L, general anesthesia did not prolong the patients' post-operative discharge time(P>0.05).Patients in the group G displayed significant higher IOP (P<0.001), shallower central anterior chamber depth (P=0.018), and shallower peripheral anterior depth (P<0.001). The dramatic reductions in IOP after surgery were exhibited in group G as compared with group L(P=0.002). There were no statistically significant differences in postoperative central anterior chamber depth, incidences in postoperative mannitol use, as well as incidences in visual acuity improvement on the first day after surgery. Conclusion: Glaucoma patients with poor preoperative ocular conditions were able to complete the complex glaucoma surgery under general anesthesia without prolonging their post-operative discharge time.
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.
目的：利用双向孟德尔随机化方法(mendelian randomization,MR)探索骨关节炎与青光眼的潜在因果关系。方法：使用全基因组关联研究(genome-wide association studies,GWAS)数据，挑选出与骨关节炎和青光眼高度相关的单核苷酸多态性(single nucleotide polymorphism,SNP)作为工具变量。本研究以逆方差加权法(inverse variance weighted,IVW)作为主要的分析手段，以加权中位数法、加权模型法、简单众数法及MR-Egger回归法作为辅助方法，采用F统计量、Cochran Q检验、MR Egger截距测试、留一法(leave one out)及多效性残差和离群值法(mendelian randomization pleiotropy RESidual sum and outliers,MR-PRESSO)进行敏感性分析。本研究采用比值比(odds ratio,OR)作为主要的效应量度指标，以95%置信区间(confidence interval,CI)评估关联强度，探讨骨关节炎与青光眼的双向因果关系。结果：IVW结果表明骨关节炎可增加青光眼的患病风险(95%CI: 1.00~1.20，OR=1.10，P=0.043)，辅助方法的结果显示了相同的因果方向，但无统计学意义。在反向MR分析中，IVW结果表明，青光眼不会增加患骨关节炎的风险(OR=1.02，95%CI: 0.97~1.08)，4种辅助方法均支持IVW结果。所选SNP的F统计量均超过10，无弱工具变量。Cochran Q检验、MR-Egger截距检验以及MR-PRESSO分析结果均未显示所选SNP之间存在异质性或水平多效性。反向MR分析结果显示Cochran Q检验有异质性，但未发现水平多效性。留一法结果显示没有对整体分析结果产生了显著影响的SNP。结论：正向MR分析表明骨关节炎可能会增加患青光眼的风险，二者之间存在正相关。反向MR分析结果表明，青光眼对骨关节炎无因果效应。
Objective: To investigate the potential bidirectional causal association between osteoarthritis and glaucoma through the application of bidirectional Mendelian randomization (MR). Methods: Instrumental variables were selected in this study based on single nucleotide polymorphisms (SNP) strongly associated with osteoarthritis and glaucoma, as utilizing genome-wide association studies (GWAS) data. The inverse variance weighting (IVW) method was served as the primary analytical approach, while the weighted median mode, simple plurality and MR-Egger regression methods were employed as complementary methods. Sensitivity analyses were conducted using F-statistic, Cochran Q-test, MR Egger's intercept test, leave-one-out, and multiplicity of residuals and outliers method (MR-PRESSO). The ratio of odds ratios (OR) was adopted as the primary effect estimate, and the strength of association was evaluated by 95% confidence interval (CI) to explore the bidirectional causal relationship between osteoarthritis and glaucoma. Results: The IVW analysis revealed that osteoarthritis elevates the risk of glaucoma with an odds ratio of (OR) of 1.10(95% CI: 1.00-1.20). While the adjunctive methods concurred with this causal direction, their findings did not reach statistical significance. In contrast, the inverse Mendelian randomization (MR) analysis utilizing the inverse variance weighting method demonstrated that glaucoma does not enhance the risk of developing osteoarthritis (OR=1.02, 95% CI: 0.97-1.08). This conclusion was upheld by all four auxiliary methods. The F-statistic values for the selected SNP exceeded 10, indicating the absence of weak instrumental variables. Furthermore, the Cochran Q test, MR-Egger intercept test, and MR- PRESSO analyses revealed no evidence of heterogeneity or horizontal pleiotropy among the SNP. However, the inverse MR analysis displayed heterogeneity in the Cochran Q test, yet no horizontal pleiotropy was detected. The leave-one-out method analysis identified no significant influence of any individual SNP on the overall results. Conclusions: Forward MR analyses indicated that osteoarthritis may serve as a risk factor for glaucoma, indicating a positive correlation between the two conditions. Conversely, reverse MR analysis failed to establish a causal link between glaucoma and osteoarthritis.
Schlemm管（Schlemm's canal，SC）作为房水流出的主要通道，通过调节房水外排来维持眼内压的平衡，其结构和功能的异常与高眼压及青光眼的发生发展密切相关。对SC的研究有助于阐明房水外排阻滞的发生机制、探索新的途径以增加房水排出，从而为降低眼压和青光眼治疗的新药物开发提供基础。目前，对SC发育和功能的调节机制的认识仍然有限，缺乏针对SC的特异性治疗策略。近年来，关于SC细胞命运决定及其结构发育的细胞学机制逐渐被揭示，功能调控的关键分子靶标也相继被发现，这促进了对SC结构和功能调控的深入理解。此外，作为降眼压药物靶点和针对性手术的创新应用也在不断拓展。文章系统回顾SC的结构与功能研究，总结关键的分子和细胞学调控机制，归纳SC靶向药物和手术疗法的最新进展，为青光眼的临床诊治提供了新的思路。
Schlemm's canal (SC), as the primary pathway for aqueous humor drainage, maintains intraocular pressure balance by regulating aqueous outflow. Abnormalities in its structure and function are closely associated with elevated intraocular pressure and the development of glaucoma. Research on SC aids in elucidating the mechanisms behind outflow resistance and exploring new avenues to enhance aqueous drainage, thereby providing a foundation for the development of new drugs aimed at lowering intraocular pressure and treating glaucoma. Currently, our understanding of the mechanisms regulating SC development and functionality remains limited, with a lack of specific therapeutic strategies targeting SC. In recent years, advancements in measurement and imaging technologies have revealed the molecular and cellular mechanisms underlying SC development, leading to the identification of key regulatory targets. This has enhanced our understanding of SC structural and functional regulation. Furthermore, innovative applications of SC as a target for intraocular pressure-lowering medications and surgical interventions are continually expanding. This article systematically reviews the research on the structure and function of SC, summarizes the key molecular and cellular regulatory mechanisms, and discusses the latest advancements in SC-targeted pharmacological and surgical therapies, providing new insights for the clinical diagnosis and management of glaucoma.
青光眼是世界首位不可逆性致盲性眼病，降眼压是唯一被证实有效的干预措施。手术是降低眼压的主要途径，近年来创伤更小、术后炎症反应更轻、并发症更少的微创青光眼手术逐渐在临床得到应用。超声睫状体成形术(ultrasound cycloplasty, UCP)是一种新型微创青光眼治疗技术。本文综述了国内外现有研究，表明UCP在治疗各种类型青光眼中均表现出良好的降眼压效果，但不同类型青光眼疗效存在一定差异。UCP可减少术后局部抗青光眼药物的使用数量，同时显示出较少的并发症和较轻的术后反应。与其他睫状体分泌功能减弱性手术相比，该手术在缓解难治性青光眼患者因高眼压导致的局部疼痛方面尤为有效。青光眼类型、超声探头型号匹配及治疗扇区数量是影响疗效的主要因素，其适应证的准确把握及手术参数设计的优化将进一步提高其治疗效果。本文归纳了UCP治疗青光眼的作用原理、手术操作与术后用药、适应证与禁忌证、有效性、安全性及其疗效的影响因素，以期为其临床应用和研究提供参考依据。
Glaucoma is the leading cause of irreversible blindness worldwide. Lowering intraocular pressure (IOP) is the only proven intervention to effectively prevent visual field deterioration and slow the progression of glaucoma. Surgery plays a critical role in reducing IOP, with traditional glaucoma surgeries focusing primarily on classic filtration procedures. In recent years, minimally invasive glaucoma surgeries (MIGS), characterized by less trauma, milder postoperative inflammation, and fewer complications, have been increasingly applied and continuously refined in clinical practice. Ultrasound cycloplasty (UCP) is a novel, minimally invasive technique for glaucoma treatment. This article reviews existing research both domestically and internationally, showing that UCP demonstrates good IOP-lowering effects in various types of glaucoma, though its efficacy varies across different glaucoma types. UCP reduces the need for postoperative anti-glaucoma medications, while also exhibiting fewer complications and milder postoperative reactions. Compared with other ciliary body function-reducing surgeries, UCP is particularly effective in alleviating local pain caused by elevated IOP in patients with refractory glaucoma. The type of Glaucoma, matching of the ultrasound probe model, and the number of treatment sectors are key factors influencing UCP efficacy. Accurate selection of indications and optimization of surgical parameters will further enhance its therapeutic outcomes. This article summarizes the mechanisms, surgical procedures, postoperative medication, indications and contraindications, efficacy, safety, and factors influencing UCP outcomes in glaucoma treatment, aiming to provide a reference for its clinical application and research.
目的：探讨青光眼日间手术患者的自我管理行为现状及影响因素分析。方法：采用便利抽样法选取2021年9月—2022年5月于广州市某三级甲等眼科专科医院就诊的223例青光眼日间手术患者。采用一般资料调查表、青光眼自我管理行为量表、慢性疾病自我效能量表和青光眼知识学习问卷进行问卷调查。结果：青光眼日间手术患者的自我管理行为得分为(54.03±6.95)分，其中生活调整维度得分最低。慢性病自我效能与自我管理行为呈正相关(r=0.368, P<0.001)。疾病知识与自我管理行为无显著相关性(r=0.077, P=0.252)。多因素线性回归分析结果显示，患者的文化程度(P<0.001)和自我效能(P=0.028)是自我管理行为的影响因素，可解释自我管理行为总变异的12.4%。结论：青光眼日间手术患者具有良好的自我管理行为，较低的自我效能和文化程度是自我管理行为的危险因素，因此应优先提高患者的自我效能，并提供个性化教育。
Objective: To determine self-management and its association with self-efficacy and knowledge among glaucoma patients undergoing day surgery. Methods: A total of 223 glaucoma patients were recruited from September 2021 to May 2022and they were investigated with the Glaucoma Self Management Questionnaire (GSMQ), The Self- Efficacy in Chronic Disease Scale (SECD-6), and the glaucoma knowledge questionnaire. Results: Of the 223 study participants, the study population had a total GSMQ score of 54.03±6.95 with the lowest score found in the life adjustment dimension. The total SECD-6 score was showing a significantly positive correlation with the total GSMQ score(r =0.368, P <0.001). The total score of disease knowledge was without significant correlation with the total GSMQ score (r =0.077, P =0.252). Multivariate linear regression analysis showed that self-efficacy (P <0.001) and education level was independently associated with self-management(P =0.028). Conclusions: Glaucoma patients undergoing daytime surgery demonstrated good overall self-management, yet further improvement was required in terms of life adjustment. Low self-efficacy and educational level were identified as risk factors for self-management. Therefore, self-management programs should prioritize enhancing patients' self-efficacy and delivering individualized education.
青光眼是全球第一大不可逆性致盲性眼病，影响全球7 000多万人，其特征是视网膜神经节细胞的退行性病变。到2040年，预计全球青光眼患者人数将增加至1.12亿，其中约10%的人至少一只眼睛失明。由高眼压诱发、多种致病因素导致的视网膜神经节细胞死亡是青光眼进展过程中视功能损伤的主要病理过程，也是青光眼病程中视功能损害不可逆的重要原因。目前降眼压治疗是唯一的干预疗法，然而其仍然不能完全遏止视网膜神经节细胞进行性损伤，并且既往病程造成的视神经损伤不可逆转。探索青光眼进程中视网膜神经节细胞退行性改变的直接致病因素，寻找关键的治疗靶点，以及开发新的具有神经保护作用的治疗药物，具有重要意义。文章回顾了近年来青光眼中视网膜神经节细胞退行性病变的机制和治疗的新进展，强调了神经血管单元的改变在青光眼发病机制中的重要作用和干预价值。同时，靶向代谢的药物应用、抑制早期炎症反应和减少氧化应激，辅以营养和运动支持等可能延缓和抑制神经退行性病变的发生，起到神经保护作用。未来青光眼发病机制的研究重点仍然在眼压之外的致病因素上，从血流、代谢和免疫串扰的病理环境中发掘对神经退行性改变重要的致病因素并进行干预治疗具有广阔的前景。在多种动物模型中验证干预手段的神经保护作用，也有望提高青光眼神经保护的临床转化成功率，以拓展青光眼的治疗理念与药物选择。
Glaucoma stands as the leading cause of irreversible blindness globally, affecting over 70 million individuals. It is characterized by progressive degeneration of retinal ganglion cells (RGCs). By 2040, the global prevalence of glaucoma is expected to rise to 112 million, with approximately 10% experiencing blindness in at least one eye. The primary pathological basis for visual function impairment in glaucoma progression is the loss of RGCs induced by elevated intraocular pressure (IOP) and various pathogenic factors. Currently, IOP-lowering treatment is the only intervention available, but it cannot completely halt the progressive injury to RGCs, nor can it reverse the optic nerve damage caused by prior disease progression. Exploring the direct pathogenic factors of RGC degeneration in glaucoma, identifying key therapeutic targets, and developing new neuroprotective treatments are of great importance. This review discusses recent advancements in the mechanisms and treatments of retinal ganglion cell degeneration in glaucoma, highlighting the significant role of neurovascular unit changes in the pathogenesis of glaucoma and the potential value of interventions. Additionally, targeting metabolites, inhibiting early inflammatory responses, and reducing oxidative stress, supplemented by nutritional and exercise support, may help delay and inhibit neurodegenerative processes, offering neuroprotective effects.Future research on glaucoma pathogenesis should focus on factors beyond IOP, exploring pathogenic factors in the pathological environment of blood flow, metabolism, and immune crosstalk for targeted therapeutic interventions. Also, verifying the neuroprotective effects of these interventions in various animal models holds promise for improving the clinical translation success rate of neuroprotection in glaucoma, thus expanding therapeutic concepts and drug options.
目的：分析Hallermann-Streiff综合征(Hallermann-Streiff syndrome,HSS)继发性青光眼的临床表现，探讨其治疗方法。方法：采用病例系列研究与文献回顾方法，记录3例确诊为HSS继发性青光眼患者的视力、眼压、裂隙灯、超声生物显微镜、相干光断层扫描、角膜地形图、A超、B超、X线眼眶大小测量等检查结果。随访患者药物治疗、周边虹膜切除术、小梁切除术或青光眼阀植入术的疗效。结果：3例患者年龄分别为9、29和47岁，其中女性2例、男性1例。最佳矫正视力为0.04-0.5，平均屈光度为+12.1D，平均眼压为37.7 mmHg，平均角膜直径为9.1 mm，平均中央前房深度为2.43 mm，平均眼轴长度为18.13 mm，角膜地形图示平均K1值为56.97 D，平均K2值为60.65 D。眼眶水平径为28.86~31.40 mm，垂直径为30.16~32.90 mm。2例年轻患者为无晶状体眼，伴葡萄膜炎、瞳孔区纤维膜、视盘旁脉络膜萎缩弧。年长患者表现为蓝色巩膜、白内障、房角关闭，眼底表现为青光眼性视杯凹陷。3例患者平均身高143 cm，伴头发及眉毛稀疏、额头前凸、鼻子呈喙状、牙齿发育不全、下颌发育不全。术后平均随访47.7个月(范围：11~84个月)，眼压控制，视力与术前一致，无治疗相关并发症出现。结论：HSS继发性青光眼的眼部病变可表现为小眼眶、小眼球、小角膜、蓝色巩膜、无晶状体、瞳孔区纤维膜、葡萄膜炎、继发性青光眼及视盘旁脉络膜萎缩。对HSS继发性青光眼的患者，个性化地选择治疗方案，可以获得较好的治疗效果。
Objective: To demonstrate the clinical characteristics and surgical effects of glaucoma in Hallermann-Streiff syndrome(HSS). Methods: Observational case series and literature review. The results of ophthalmic examinations of three patients diagnosed as glaucoma with HSS were recorded, including visual acuity, intraocular pressure (IOP), slit-lamp microscopy, ultrasound biomicroscopy, optical coherence tomography, corneal topography, A-scan and B-scan ultrasonography, and orbital size measurement by X-ray. Peripheral iridectomy, glaucoma drainage device implantation or trabeculectomy, were performed in these patients. Results: Three HSS patients were 9, 29 and 47 years old, respectively, including 2 females and 1 male. The best corrected visual acuity was 0.04-0.5. The mean spherical equivalent refraction was +12.1 D. The average IOP was 37.7 mm Hg, and the average corneal diameter was 9.1 mm. The average central anterior chamber depth was 2.43mm. The average axial length was 18.13mm. Keratometry showed average K1 of 56.97 degrees, and K2 of 60.65 degrees. Two younger patients were aphakic bilaterally with uveitis, pupillary fibrous membrane and peripapillary choroidal atrophy. The older patient showed blue sclera, cataract, and anterior chamber angle closure. The horizontal orbital diameter was 28.76-31.40 mm, and vertical orbital diameter was 30.16-32.90 mm. All patients were proportionate nanism, with an average height of 143 cm. Craniofacial manifestations included dyscephalia and “bird-like” face, hypotrichosis, dental anomalies, and mandibular hypoplasia. They were followed up for an average of 47.7 months(range:11-84 months) after surgery. The IOPs were all controlled, and the visual acuities remained unchanged. No treatment-related complications occurred. Conclusions: HSS patients with glaucoma may present as small orbit, microphthalmia, microcornea, blue sclera, aphakia, pupillary fibrous membrane, uveitis, with atrophic chorioretinal changes. For these patients, personalized treatment may help to achieve better therapeutic effects.
青光眼是全球首位不可逆性致盲性眼病，其特征是视网膜神经节细胞(retina ganglion cells, RGCs)的退行性改变，对全球经济和健康造成了重大影响。其病理变化的分子及生物机制尚不明确，目前青光眼手术和药物治疗仍然局限于将眼压控制在正常范围。小梁网作为房水排出的重要途径，是眼压控制的关键一环。眼压改变引起的视网膜退行性改变是青光眼重要病理过程之一。小梁网及视网膜的体外模型构建是研究青光眼发生发展的主要研究方法。三维培养技术可以使细胞在体外形成一定的空间结构，有利于细胞-细胞及细胞-环境的相互作用，相比传统二维培养，三维培养更加接近体内细胞的生理环境，对于研究疾病的病理生理变化及高通量药物筛选具有重要意义，同时，三维培养更有利于对细胞空间构象变化及其力学性质改变进行研究。三维打印等新技术也在三维细胞培养中有所应用，为三维定制化培养提供技术基础。文章综述了小梁网及视网膜细胞三维培养在青光眼基础研究中的应用研究进展，旨在为进一步探究青光眼病理生理机制提供新的思路。
Glaucoma is the world's first irreversible blinding eye disease, characterized by degenerative changes in retinal ganglion cells (RGCs), which have a significant impact on the global economy and health. The molecular and biological mechanisms of its pathological changes are still unclear. At present, glaucoma surgery and drug therapy are still limited to controlling the intraocular pressure in the normal range. Three-dimensional culture technology can enable cells to form a certain spatial structure in vitro, which is conducive to cell-cell and cell-environment interactions. Compared with traditional two-dimensional culture, three-dimensional culture technology is closer to the physiological environment of cells in vivo, which is of great significance for the study of pathophysiological changes of diseases and high-throughput drug screening. This review discusses the application of trabecular mesh and three-dimensional culture of retinal cells in the basic research of glaucoma, aiming to provide new ideas for further exploring the pathophysiological mechanism of glaucoma.
