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.

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.

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.

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.

儿童白内障是全球范围内可治疗儿童盲症的主要原因之一。对于这些患儿而言，手术是恢复或保护视力的主要方法。然而，手术后的并发症，特别是青光眼相关不良事件(glaucoma-related adverse events, GRAEs)，常常成为导致儿童二次致盲的主要原因，这引起了眼科医疗领域的广泛关注。文章综述了儿童Ⅱ期人工晶状体植入术后GRAEs的影响因素，包括手术设计、眼部解剖特征、其他眼部发育异常和全身疾病等。手术设计中是否植入人工晶状体(intraocular lens，IOL)以及植入的时机和位置都对GRAEs的发生有显著影响。此外，眼部解剖特征如角膜直径、眼轴长度、前房深度、中央角膜厚度和术前晶状体厚度等，也是影响GRAEs发生的重要因素。同时，其他眼部发育异常和全身疾病，如先天性无虹膜、先天性风疹综合征等，也会增加儿童白内障术后青光眼的发生率。文章还总结了预测GRAEs的方法，并推荐使用Cox回归模型建立预测模型。这种模型可以有效地预测儿童Ⅱ期IOL植入术后在特定时间段内发展为GRAEs的概率，从而为早期识别GRAEs高危儿童提供了重要的借鉴。通过对GRAEs影响因素的深入分析和预测模型的建立，文章旨在帮助眼科医生更好地理解GRAEs的发生机制，并在手术前对患儿进行风险评估，从而选择最佳的手术方案和预防措施。这对于改善患儿的术后恢复、减少并发症、保护视功能具有重要的临床意义。

Pediatric cataract is one of the leading causes of treatable childhood blindness worldwide. For these children, surgery is the primary method to restore or preserve vision. However, postoperative complications, particularly glaucoma-related adverse events (GRAEs), often become the main reason for secondary blindness in children, attracting widespread concern in the field of ophthalmology. This study reviews the impact factors of glaucoma-related adverse events after secondary intraocular lens (IOL) implantation in children, including surgical design, ocular anatomical characteristics, other ocular developmental abnormalities, and systemic diseases. Whether to implant an IOL in the surgical design and the timing and positioning of the implantation have a significant impact on the occurrence of GRAEs. In addition, ocular anatomical characteristics, such as corneal diameter, axial length, anterior chamber depth, central corneal thickness, and preoperative lens thickness, are also important factors affecting the occurrence of GRAEs. At the same time, other ocular developmental abnormalities and systemic diseases, such as congenital aniridia and congenital rubella syndrome, also increase the incidence of glaucoma after pediatric cataract surgery. The article also summarizes methods for predicting GRAEs and recommends using the Cox regression model to establish a predictive model. This model can effectively predict the probability of children developing GRAEs after secondary IOL implantation within a specific time period, providing an important reference for the early identification of high-risk children for GRAEs. Through in-depth analysis of the impact factors of GRAEs and the establishment of predictive models, the article aims to help ophthalmologists better understand the mechanisms of GRAEs and assess the risks of children before surgery, thereby selecting the best surgical plan and preventive measures. This is of great clinical significance for improving postoperative recovery in children, reducing complications, and protecting visual function.

先天性晶状体脱位(congenital ectopia lentis, CEL)是一种罕见的遗传相关性疾病，其主要临床特征是晶状体悬韧带先天性发育异常，导致晶状体偏离正常解剖位置。随着病情的进展，CEL可引起高度屈光不正甚至弱视外，还可能导致继发性青光眼和视网膜脱离等严重的并发症。目前，手术仍是改善CEL患儿视觉质量及防治并发症的主要手段。常用的手术方式包括晶状体摘除术、前房型人工晶状体(intraocular lens, IOL)植入术、囊袋支撑装置联合IOL植入术及经巩膜IOL固定术等，这些手术方式各具特点，但目前最佳手术方式仍未有定论。既往大量文献表明，手术能够显著改善CEL患儿视力，但随着眼球的生长发育，CEL患儿术后屈光状态常出现近视漂移。此外，术后并发症如缝线暴露，IOL瞳孔夹持、IOL脱位、视网膜脱离等仍有可能发生，需要长期的严密随访。这些因素都使得CEL的治疗具有挑战性。为此，文章就CEL的手术方式、视力预后、术后屈光变化及术后并发症进行综述，旨在为该疾病的临床诊断及治疗提供更为全面和深入的理解。

Congenital ectopia lentis (CEL) is a rare genetic disorder characterized by the displacement of the lens from its normal anatomical position due to abnormalities in the lens zonular. As the progression of the disease, CEL can lead to high refractive error, even amblyopia, as well as other serious complications such as secondary glaucoma and retinal detachment. Currently, surgical intervention remains the primary method to improve the visual quality and prevent complications in children with CEL.Common surgical options include lens extraction, anterior chamber intraocular lens (IOL) implantation, IOL implantation combined with capsular tension devices, and transcleral fixation of IOL. Each surgical approach has its own characteristics, but there is currently no consensus on the best surgical method. Previous literature has shown that surgery can significantly improve vision in children with CEL; however, due to the growth of the eye, postoperative refractive status often experiences myopic shift. Additionally, complications such as suture exposure, IOL pupil capture, IOL dislocation, and retinal detachment may still occur, necessitating long-term close follow-up. These factors make the treatment of CEL challenging. This article reviews the surgical approaches, visual prognosis, postoperative refractive changes, and postoperative complications associated with CEL, aiming to provide a more comprehensive and in-depth understanding for the clinical diagnosis and treatment of this disease.

青光眼是一组以病理性眼压升高为主要危险因素的，以青光眼性神经萎缩和视野缺损为主要特征的全球首位不可逆性致盲眼病。超声睫状体成形术(UCP)是一种新型非侵入性青光眼治疗技术，其降眼压主要原理为利用高强度聚焦超声破坏睫状突上皮细胞以减少房水生成，并增加葡萄膜巩膜通道的房水流出。UCP适应证广泛，早期主要用于各类难治性青光眼患者，特别是晚期及绝对期患者，研究者发现其除降眼压外，还能够显著缓解该类患者的局部疼痛。近年来，UCP在未经手术治疗的青光眼患者和早、中期青光眼病例中，也表现出了良好的降眼压效果，同时显示出较少的并发症和较轻的术后反应，并可重复治疗。然而不同类型青光眼UCP疗效存在一定差异，且为达最佳治疗效果，其治疗需匹配恰当的探头型号以及适当的治疗扇区。现有较广泛应用于国外的基于眼轴和白到白参数的公式计算方法，测算精度并不适用于国人，然而精准度更高的模型法，其便捷性仍有待进一步提高。UCP虽可减少降眼压药物用量，但术后用药策略的调整仍可能导致眼压波动。综上，针对UCP手术的适应证选择、手术参数设计、疗效预判以及术后管理策略等，仍有待开展相关临床研究，以期为其临床应用提供更加可靠的依据。

青光眼是一组以病理性眼压升高为主要危险因素的，以青光眼性神经萎缩和视野缺损为主要特征的全球首位不可逆性致盲眼病。超声睫状体成形术(UCP)是一种新型非侵入性青光眼治疗技术，其降眼压主要原理为利用高强度聚焦超声破坏睫状突上皮细胞以减少房水生成，并增加葡萄膜巩膜通道的房水流出。UCP适应证广泛，早期主要用于各类难治性青光眼患者，特别是晚期及绝对期患者，研究者发现其除降眼压外，还能够显著缓解该类患者的局部疼痛。近年来，UCP在未经手术治疗的青光眼患者和早、中期青光眼病例中，也表现出了良好的降眼压效果，同时显示出较少的并发症和较轻的术后反应，并可重复治疗。然而不同类型青光眼UCP疗效存在一定差异，且为达最佳治疗效果，其治疗需匹配恰当的探头型号以及适当的治疗扇区。现有较广泛应用于国外的基于眼轴和白到白参数的公式计算方法，测算精度并不适用于国人，然而精准度更高的模型法，其便捷性仍有待进一步提高。UCP虽可减少降眼压药物用量，但术后用药策略的调整仍可能导致眼压波动。综上，针对UCP手术的适应证选择、手术参数设计、疗效预判以及术后管理策略等，仍有待开展相关临床研究，以期为其临床应用提供更加可靠的依据。