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.

年龄相关性黄斑变性(age-related macular degeneration, AMD)是导致老年人失明的主要原因之一，其特征为光感受器的死亡和视网膜色素上皮细胞的变性。该病的发病机制复杂，涉及遗传、环境和代谢等多种因素。细胞衰老是AMD的重要危险因素，表现为细胞在经历有限次数的分裂后进入永久性细胞周期停滞状态。随着年龄增长，衰老细胞的数量增加，并与多种年龄相关的慢性疾病密切相关。细胞衰老的潜在机制包括氧化应激、DNA损伤、线粒体功能障碍、自噬/线粒体自噬缺陷以及表观遗传改变等。在AMD中，色素上皮细胞、血管内皮细胞、Bruch膜、感光细胞和小胶质细胞等不同类型的细胞均表现出衰老及其相关变化。细胞衰老在AMD的发病机制中起着关键作用，涉及多种视网膜细胞类型和血管系统的退化。通过深入研究这些机制，期望能开发出更有效的治疗方法，以帮助患者恢复和保护视力。本文回顾了细胞衰老的生物学机制及其在AMD中的作用，深入探讨了不同细胞衰老引发AMD发病的具体机制，旨在为AMD的发病机制和治疗研究提供新思路。

Age-related macular degeneration (AMD) is a leading cause of blindness among the elderly, characterized by the degeneration of retinal pigment epithelial cells and the death of photoreceptors. The pathogenesis of AMD is complex, involving a multitude of factors, including genetic, environmental, and metabolic influences. Cellular senescence serves as a significant risk factor for AMD, where cells enter a permanent state of cell cycle arrest after a limited number of divisions. As age increases, the accumulation of senescent cells is closely associated with various age-related chronic diseases. Key mechanisms underlying cellular senescence include oxidative stress, DNA damage, mitochondrial dysfunction, defects in autophagy and mitophagy, and epigenetic alterations. In the context of AMD, various cell types-including pigment epithelial cells, vascular endothelial cells, cells of Bruch's membrane, photoreceptors, and microglia-exhibit signs of senescence and related changes. Cellular senescence plays a pivotal role in the pathogenesis of AMD, contributing to the degeneration of different retinal cell types and supporting vascular systems. By thoroughly investigating these mechanisms, there is hope for the development of more effective therapies aimed at restoring and protecting vision in affected patients. This article reviews the biological mechanisms of cellular senescence and its role in AMD, exploring how different cell types contribute to the disease's onset, with the goal of providing new insights into the pathogenesis and treatment of AMD.

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.

前段巨眼(anterior megalophthalmos, AM)是一种罕见的双侧非进展性先天性眼前段增大疾病，表现为大角膜(直径≥ 12.5 mm)、前房极深、角膜厚度正常或轻中度变薄和睫状环扩大等。并发性白内障以及晶状体脱位是导致AM视力下降的主要原因。然而，解剖结构的异常使AM白内障手术具有很大的挑战性。文章报道了一例AM合并白内障的48岁男性患者，成功为其行手法小切口白内障摘除联合人工晶状体(intraocular lens, IOL)一期植入术，患者术后视力恢复良好，IOL位置居中，未出现较大的屈光误差。对该典型AM病例的临床特点以及手术难点的回顾总结，有助于加深广大眼科临床工作者对该疾病的认识。

Anterior megalophthalmos is a rare congenital enlargement of the anterior segment, characterized by bilateral nonprogressive megalocornea (diameter ≥12.5 mm), extremely deep anterior chamber, normal or moderate thinning of the cornea, and elongation of the ciliary ring. Cataract and lens dislocation are the main causes of decreased vision in patients with AM. However, cataract surgery on patients with AM are challenging due to the anatomical abnormalities. This case reports a 48-year-old male patient diagnosed with AM and cataract, who successfully underwent a manual small incision cataract extraction combined with intraocular lens implantation. Finally, our patient showed a good visual outcome with a well centered IOL and without obvious refractive error. In this typical AM case, we reviewed and summarized the clinical characteristics and the challenges of surgical treatment so that other ophthalmologists can learn about this disease.

脉络膜是视网膜的主要血供来源，脉络膜血管系统为眼内最大、最重要的血管系统，在给外层视网膜供血方面起着至关重要的作用。脉络膜是一个动态、多功能性结构，其生理性特性受多种因素影响。这些因素包括年龄、性别、解剖位置、眼轴长度、昼夜节律与饮酒等。脉络膜涡静脉根据解剖学位置可分为眼内、巩膜内和眼外三大部分，又进一步分为脉络膜静脉、壶腹前部、壶腹、壶腹后部、巩膜入口、巩膜内通道、巩膜出口和巩膜外涡静脉八个区域。在正常眼中，涡静脉的类型不仅限于传统认知中出口位于赤道部近睫状体平坦部的涡静脉，研究发现还存在出口位于后极部的后极部涡静脉。根据涡静脉的形态及解剖特点，涡静脉又分为四类：缺失型涡静脉、不完整型涡静脉、完整型涡静脉、完整型涡静脉伴壶腹。文章旨在阐述正常人眼的脉络膜血流及涡静脉解剖基础，以深入了解正常状态下的脉络膜特征，这不仅有助于辨别脉络膜的病理性变化，且对脉络膜相关眼部疾病的诊断与鉴别诊断有重要价值。

The choroid is the primary source of blood supply for the retina. As the largest and most important vascular system within the eye, the choroidal vasculature plays a crucial role in providing blood to the outer retina. The choroid is a dynamic, multifunctional structure whose physiological characteristics are influenced by a variety of factors. These factors include age, gender, anatomical location, axial length of the eye, circadian rhythm, and alcohol consumption, among others. Choroidal vortex veins can be anatomically divided into three main parts: intraocular, scleral, and extraocular. Furthermore, they can be subdivided into eight distinct regions: choroidal veins, pre-ampulla, ampulla, post-ampulla, scleral entrance, intrascleral canal, scleral exit, and extrascleral vortex vein. In the healthy eye, the types of vortex veins are not limited to the traditionally recognized veins with exits near the ciliary body pars plana in the equatorial region. Recent research has revealed the existence of posterior vortex veins with exits in the posterior pole of the eye. Based on the morphology and anatomical characteristics of vortex veins, they can be further classified into four types:absent vortex veins, incomplete vortex veins, complete vortex veins, complete vortex veins with ampulla. This paper aims to elucidate the blood flow and vortex veins anatomical foundation of the choroid in normal human eyes. Understanding these characteristics in a healthy state will aid in identifying pathological changes in the choroid, which is of significant value for the diagnosis and differential diagnosis of ocular diseases.

先天性白内障是严重影响婴幼儿视功能的疾病。随着白内障手术和人工晶体植入手术技术的发展，先天性白内障患者术后多可获得高质量的视觉康复。然而，如何更好防治手术相关的不良事件和并发症、先天性白内障伴随的其他眼部发育不良疾病的治疗以及形觉剥夺性弱视的治疗，仍然是先天性白内障手术后需要重视的临床问题。文章对先天性白内障摘除及人工晶体植入术后高眼压和继发性青光眼的发生、相关危险因素、治疗和预防的手段进行总结，以期进一步提高对先天性白内障术后高眼压和青光眼防治的认识，减少术后并发症对视功能造成的进一步损害。

Congenital cataract is a significant condition that profoundly impacts the visual function of infants and young children. Advancements in cataract surgery and intraocular lens implantation have enabled the achievement of high-quality visual rehabilitation after congenital cataract surgery. Nevertheless, effective prevention and treatment of surgery-related adverse events and complications, as well as managing other ocular dysplasia and form deprivation amblyopia that may arise in conjunction with the surgery, continue to pose important clinical challenges following congenital cataract surgery. This article provides a comprehensive overview of the occurrence, risk factors, treatment and prevention of high intraocular pressure and secondary glaucoma after congenital cataract and intraocular lens implantation. Its aim is to enhance the comprehension of preventive and therapeutic measures for high intraocular pressure and glaucoma after congenital cataract surgery, thereby minimizing potential postoperative complications and preserving visual function.

角膜屈光手术是目前屈光手术的主流术式，随着全飞秒、全激光手术方式的发展，手术变得更加安全精准，不仅角膜创伤小，术后恢复时间也进一步缩短。角膜具有屈光特性和典型的生物软组织力学特性，角膜力学特性不仅参与维持角膜形态，影响角膜手术尤其屈光手术的效果及预后，而且还与部分角膜疾病的发生和发展密切相关。近年来生物力学研究发展迅速，其在眼部疾病的诊疗中发挥着越来越重要的作用。角膜生物力学的变化与术前角膜的形态、不同手术方式的选择、术后角膜厚度的改变等多种因素相关，但手术导致的角膜自身形态改变是不可逆的，若术后角膜生物力学的变化较大，可能会引起医源性角膜扩张、继发性圆锥角膜等并发症的发生。为了规避术后角膜扩张风险和指导个性化的术式选择，了解角膜生物力学特性的影响至关重要。文章对角膜的基础结构、角膜生物力学特性、生物力学测量方法和不同术式及不同角膜瓣厚度术后生物力学变化的研究进展进行综述，为近视患者的个性化精准治疗提供理论指导。

Corneal refractive surgery is currently main stream of refractive surgery. With the development of femtosecond and laser surgery, the surgery has become safer and more accurate, resulting in less corneal trauma and a shorter postoperative recovery time. In recent years, biomechanics research has rapidly progressed, and its clinical application has gradually increased. The cornea not only possesses refractive properties but also exhibits typical biological soft tissue mechanical properties. Corneal mechanical properties not only play a role in maintaining corneal morphology but also influence the outcome and prognosis of corneal surgery, especially refractive surgery, and are closely related to the occurrence and development of some corneal diseases. Corneal refractive surgery involves cutting the cornea according to the patient's diopter, which disrupts the integrity of the cornea and inevitably affects its biomechanical stability. Changes in corneal biomechanics are associated with various factors, such as preoperative corneal morphology, the selection of different surgical methods, and postoperative changes in corneal thickness. However, the self-morphology changes caused by surgery are irreversible. If the postoperative changes in corneal biomechanics are significant, it may lead to complications such as postoperative corneal dilation and secondary keratoconus. To avoid postoperative iatrogenic corneal dilation and guide personalized surgical choice, it is crucial to understand the limits of influence of corneal biomechanical properties. This article reviews the research progress regarding corneal biomechanical properties and changes associated with corneal refractive surgery.

随着移植技术逐年发展，异基因造血干细胞移植患者的生存期延长，长期并发症成为影响患者预后及生活质量的主要原因。眼移植物抗宿主病是异基因造血干细胞移植术后最常见的眼部并发症，发生率可高达50%以上。根据发病时间可分为急性及慢性眼移植物抗宿主病，临床上最常以慢性炎症及眼表组织纤维化为特点，主要表现为干眼和不同程度的角结膜炎，治疗较为棘手，可不同程度影响患者视觉质量及生活质量，严重可致盲。近年来眼移植物抗宿主病越来越受到国内外学者重视，其发病机制、临床特点、诊断及治疗相关研究逐渐深入，文章针对眼移植物抗宿主病的临床诊疗新进展进行综述。总体而言，眼移植物抗宿主病早期识别仍较为困难，早期诊断策略有待进一步探索。目前治疗对眼移植物抗宿主病的效果较为有限，或缺乏充足的循证医学证据，临床上缺乏针对不同严重程度及疾病活动度的分级诊疗策略，未来有待进一步探索新的治疗靶点及疾病活动监测指标，将有助于改善患者长期预后及生活质量。

Despite advancements in allogeneic hematopoietic stem cell transplantation techniques leading to improved overall survival rates, long-term complications have emerged as the primary contributors to poor prognosis and diminished quality of life. Ocular graft-versus-host disease (oGVHD), a prevalent complication affecting over 50% of patients post-transplantation, frequently manifests as refractory dry eye, often accompanied by keratoconjunctivitis. Patients with oGVHD routinely suffer from visual impairment and a decline in their quality of life.Currently, research into the mechanisms, clinical features, diagnosis, and treatment of oGVHD has progressively deepened. This article reviews the latest advancements in the clinical diagnosis and management of oGVHD. Notably, there is a pressing need for strategies focused on early diagnosis and treatment, as early recognition of oGVHD remains challenging. Existing treatments for oGVHD either exhibit limited efficacy or lack robust clinical evidence to support their use as the best available options.Further research is imperative to develop tiered diagnostic and treatment approaches, including the exploration of novel therapeutic targets and biomarkers for disease detection. Such endeavors hold the promise of enhancing patients' long-term prognosis and quality of life.

人工智能(artificial intelligence, AI)在医学领域的广泛应用为探索眼部与全身健康的关系提供了新的机遇。文章回顾了眼科AI在心血管健康、神经系统健康、肾脏健康和衰老过程中的应用。在心血管健康方面，AI能够通过分析眼底图像预测心血管疾病风险因素和未来心血管事件，并提供了简便、有效的风险分层方法。在神经系统健康方面，眼科AI在阿尔茨海默病早期诊断和帕金森病识别方面显示出潜力，尽管对未来事件预测仍具挑战性。针对多发性硬化，眼科AI在诊断和预测残疾进程上展现了良好效果。在肾脏健康中，眼科AI技术通过分析视网膜图像可预测肾功能相关指标、直接检测肾病事件，展示了其在改善肾病筛查方式和减轻医疗负担方面的潜力。在衰老过程中，AI能够利用眼部图像预测生物年龄、视网膜年龄差和晶状体年龄等参数提供了生物衰老指标，为理解衰老与眼部健康的关联提供了新视角。

The widespread application of artificial intelligence (AI) in the medical field has provided new opportunities to explore the relationship between eye and whole body health. This article reviews the application of ophthalmic AI in cardiovascular health, neurological health and aging. In terms of cardiovascular health, AI can predict cardiovascular disease risk factors and future cardiovascular events by analyzing fundus images, and provides a simple and effective risk stratification method. In terms of neurological health, ophthalmic AI shows potential in early diagnosis of Alzheimer's disease and identification of Parkinson's disease, although the prediction of future events remains challenging. For multiple sclerosis, ophthalmic AI has shown good results in diagnosing and predicting the progression of disability. In kidney health, ophthalmic AI technology can predict kidney function-related parameters and detect kidney disease events by analyzing retinal images, demonstrating its potential in improving kidney disease screening methods and reducing medical burdens. In the aging process, AI can use eye images to predict biological age. Parameters such as retinal age gap and LensAge provide biological aging indicators, providing a new perspective for understanding the relationship between aging and eye health.