目的：探讨获得性免疫缺陷综合征（acquired immune deficiency syndrome, AIDS）合并巨细胞病毒性视网膜炎（cytomegalovirus retinitis，CMVR）抗病毒治疗后眼内液特征，为临床优化治疗方案、评估疗效提供参考。方法：回顾性分析2018年11月—2024年12月广州医科大学附属市八医院收治的49例AIDS合并CMVR患者的临床资料，按治疗方式的不同分为全身用药组（n=23，30眼）及联合组（n=26，30眼），全身用药组予静脉滴注膦甲酸钠全身抗病毒治疗，联合组在此基础上加用玻璃体腔注射更昔洛韦，比较两组的眼内液特征。结果：治疗后两组眼内液CMV核酸载量、白细胞介素（interleukin, IL）-6、IL-8、IL-10、血管内皮生长因子（vascular endothelial growth factor, VEGF）、碱性成纤维细胞生长因子（basic fibroblast growth factor，BFGF）、血管细胞黏附分子（vascular cell adhesion molecule, VCAM）水平低于治疗前，且联合组低于全身用药组（P＜0.05）；治疗前后两组均未检出单纯疱疹病毒（herpes simplex virus, HSV）、水痘-带状疱疹病毒（varicella-zoster virus, VZV）、爱泼斯坦-巴尔病毒(epstein-barr virus, EBV)、人疱疹病毒6型（human herpesvirus 6, HHV-6）。Spearman秩相关分析显示，房水中CMV核酸载量与IL-6、IL-8、IL-10、VEGF、BFGF、VCAM均呈正相关（P＜0.05）。结论：AIDS合并CMVR患者经全身联合局部抗病毒的疗效更佳，可更显著降低眼内液CMV核酸载量及相关炎症、生长因子水平，且房水CMV核酸载量与上述细胞因子水平呈正相关系。

Objective: To investigate the intraocular fluid characteristics of acquired immunodeficiency syndrome (AIDS) complicated with cytomegalovirus retinitis (CMVR) after antiviral treatment. Method: A retrospective analysis was conducted on the clinical data of 49 patients with AIDS and concomitant CMVR admitted to our hospital from November 2018 to December 2024. They were divided into a control group (n=23, 30 eyes) and a combination group (n=26, 30 eyes) according to different treatment methods. The control group received systemic antiviral treatment with intravenous sodium phosphonate, while the combination group received intravitreal injection of ganciclovir (GCV) on this basis. The intraocular fluid characteristics of the two groups were compared. Result: After treatment, the levels of CMV nucleic acid load, interleukin-6, IL-8, IL-10, vascular endothelial growth factor (VEGF), basic fibroblast growth factor (BFGF), and vascular cell adhesion molecule (VCAM) in the intraocular fluid of both groups were lower than before treatment, and the combined group was lower than the control group (P<0.05); No HSV was detected in both groups before and after treatment EBV、VZV、HHV-6。 Spearman correlation analysis showed that the CMV nucleic acid load in aqueous humor was positively correlated with IL-6, IL-8, IL-10, VEGF, BFGF, and VCAM (P<0.05). Conclusion: AIDS patients with CMVR showed better efficacy after systemic and local antiviral treatment, and exhibited significant decreases in CMV nucleic acid load and related cytokines in aqueous humor.

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.

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.

作为一种新型无创且操作简单的主观检查手段，临界闪烁融合频率(critical flicker fusionfrequency,CFF)可动态反映人眼视功能变化情况。作为早期识别脱髓鞘病变和评估视功能恢复情况的敏感指标，上个世纪已被国外学者用于视网膜和视神经疾病研究中，包括氯喹中毒性视网膜病变、糖尿病视网膜病变、中心性浆液性视网膜病变、年龄相关的黄斑病变、乙胺丁醇中毒性视神经病变、视神经炎和非动脉炎性前部缺血性视神经病变。在视网膜和视神经疾病中，CFF均有不同程度下降，依据CFF改善程度以及主要损害的色光可能有助于视网膜和视神经疾病的鉴别，且CFF与其他视功能，视力、视野、视觉诱发电位的潜时具有较好的相关性。目前国内相关研究尚处于起步阶段，本文就CFF在视网膜和视神经疾病的应用情况做一总结。

As a new non-invasive and simple subjective examination method, critical flicker fusion frequency (CFF) can dynamically reflect the changes of visual function of human eyes. As a sensitive indicator for early identification of demyelinating diseases and assessment of visual function recovery, it has been used by foreign scholars in the last century in the field of retinal and optic nerve diseases, including chloroquine toxic retinopathy, diabetic retinopathy, central serous retinopathy, age-related macular degeneration, ethambutol-induced optic neuropathy, optic neuritis and non-arteritic anterior ischemic optic neuropathy. Though there was a different decrease of CFF in retina and optic nerve diseases, it may be helpful for the differentiation of retinal and optic nerve diseases according to the degree of CFF improvement and the main damaged color light. Moreover, CFF has a good correlation with other visual functions, visual acuity, visual field, and peak time of visual evoked potential. At present, and relevant domestic studies is still in its infancy. This article summarizes the application of CFF in retinal and optic nerve diseases.

糖尿病视网膜病变(diabetic retinopathy,DR)是世界范围内劳动年龄人口视力损伤的主要原因。糖尿病前期和DR临床前期患者作为罹患DR的高危人群，在该阶段可发现视网膜神经元形态功能及视网膜微小血管的改变。视网膜及神经纤维层厚度的变化可部分反映视网膜神经元结构改变；色觉、对比敏感度、视野及视觉电生理等变化可反映视网膜神经元功能改变。随着光学相关断层扫描血管成像技术的发展，临床可以检测出DR之前视网膜微血管的改变。此外，许多生物标志物也可以预测和评估DR。由于目前还没有方法可以阻止DR的发生与进展，临床可以通过观察以上视网膜的改变更为及时地发现DR，以降低其患病率，最大限度地减少DR带来的视力损伤。

Diabetes retinopathy (DR) is the main cause of visual impairment in the working population worldwide. Patients with pre-diabetes and pre-clinic diabetic retinopathy are regarded as in high risk group of DR. The changes in morphology and function of renal neurons and retinal micro-vessels can be found in these patients at this stage. The changes of retinal nerve structure can be partly reflected by changes in the thickness of retina and nerve fiber layer. The changes in function of retinal neurons can be reflected by changes in color vision, contrast sensitivity, visual field and visual electrophysiology.With the development of optical coherence tomography angiography, changes in retinal micro-vessels can be observed prior to clinical detection of DR. In addition, many biomarker can also predict and evaluate DR. Since there is no way to prevent the occurrence and progress of DR at present, more attention should be paid in DR by observing the changes inthe retina mentioned above timely, to reduce its incidence and minimize the visual damage caused by DR.

糖尿病视网膜病变(diabetes retinopathy, DR)是糖尿病常见的眼部并发症，其病理过程复杂，涉及多种细胞及炎症因子。Müller细胞作为视网膜主要支持细胞，在DR中不仅产生白介素-17(interleukin-17, IL-17)，还作为其主要靶点发挥作用，通过谷氨酸代谢异常、血管内皮生长因子(vascular endothelial growth factor, VEGF)分泌增加及调控参与DR的病理过程，加重炎症反应。IL-17主要由辅助性T细胞17(T helper cell 17, Th17)分泌，通过促进多种炎症介质(如细胞因子、趋化因子和金属蛋白酶)的分泌，增强炎症反应，导致视网膜微血管损害和神经元凋亡，促进DR的发展。高糖环境下，Müller细胞功能受损，IL-17进一步加剧其功能障碍形成恶性循环。研究表明，阻断IL-17及核因子-κB激活剂1(Nuclear factor-kappa B activator 1, Act1)/肿瘤坏死因子受体关联因子6(tumor necrosis factor receptor associated factor 6, TRAF6)/核因子-κB(Nuclear factor-kappa B, NF-κB)信号通路可减轻DR的病理改变，为DR的治疗提供了新的思路。因此，深入研究IL-17与Müller细胞在DR中的相互作用机制，对于研究该疾病的发病机制及开发精准有效的治疗策略具有重要意义。

Diabetes retinopathy (DR) is a common ocular complication of diabetes, characterized by a complex pathological process involving multiple cells and inflammatory factors. Müller cells, as the primary supporting cells of the retina, not only produce interleukin-17 (IL-17) but also serve as a primary target in DR. They participate in the pathological process of DR by contributing to abnormal glutamate metabolism, increased secretion of vascular endothelial growth factor (VEGF), and regulatory functions, thereby exacerbating the inflammatory response. IL-17 is primarily secreted by T helper cell 17 (Th17) cells and enhances the inflammatory response by promoting the secretion of various inflammatory mediators (such as cytokines, chemokines, and metalloproteinases), leading to retinal microvascular damage and neuronal apoptosis, which accelerates the progression of DR. In a high-glucose environment, Müller cell function is impaired, and IL-17 further exacerbates this dysfunction, creating a vicious cycle. Studies have shown that blocking the IL-17 and Act1/TRAF6/NF-κB signaling pathways can mitigate the pathological changes associated with DR, providing new insights for the treatment of this disease. Therefore, conducting in-depth research on the interaction mechanism between IL-17 and Müller cells in DR is of great significance for exploring the pathogenesis of this disease and developing precise and effective treatment strategies.

目的：初步评价折叠顶压球囊(foldable capsule buckle,FCB)治疗孔源性视网膜脱离(rhegmatogenous retinaldetachment,RRD)的有效性、安全性以及手术可操作性。方法：裂孔位置距角膜缘后≥15 mm的采用前瞻性临床病例研究。选择2020年3月至2021年9月在济南明水眼科医院院行FCB植入术治疗裂孔位置距角膜缘后≥15 mm的10例RRD患者(10眼)。应用眼部B型超声、眼底照相评价手术效果。根据术后有无FCB是否暴露、复视情况、排斥反应、眼球运动障碍等术后并发症的发生情况评价手术的疗效和安全性。结果：随访6个月~2年。10例RRD患者在术后通过眼部B超、眼底照相及光学相干断层扫描(opticalcoherence tomography,OCT)评估视网膜均复位。1例合并黄斑区视网膜脱离的患者视力提高。9例患者术后出现复视，术后1~3个月复视消失，1例在术后4个月仍存在复视，行FCB取出，术后视网膜未出现再脱离，复视症状消失。结论：初步研究可确定折叠顶压球囊植入治疗裂孔位置比较靠后(距角膜缘后≥15 mm)且传统巩膜扣带术操作难度大的孔源性视网膜脱离安全、有效，对眼球损伤小，易于操作。

Objective: To preliminarily evaluate the effectiveness, safety and surgical operability of foldable capsule buckle (FCB) in the treatment of rhegmatogenous retinal detachment (RRD). Methods: It is a prospective clinical case study. Ten patients (10 eyes), with a distance of ≥ 15 mm from the posterior margin of the angular membrane at the location of the fissure, who underwent FCB implantation surgery for RRD at Jinan Mingshui Ophthalmology Hospital from March 2020 to September 2021 were enrolled. The surgical outcome was evaluated by B-ultrasound, fundus photography and optical coherence tomography (OCT). The surgical efficay and safety were evaluated by the postoperative complications, such as FCB exposure, diplopia, rejection, and eye movement limitation. Results: The mean follow-up time was 1 year (6 months to 2 years). Retinal reattachment was evaluated by B-ultrasound, fundus photography and OCT after operation in 10 patients. One patient with macular retinal detachment had improved visual acuity. 9 patients developed diplopia after operation, but diplopia disappears 1-3 months after operation. One patient still had diplopia 4 months after operation, and FCB was removed 4 months after operation. No retinal detachment occurred after operation, and the symptoms of diplopia disappeared.Conclusion: It is confirmed by this preliminary research that the implantation of the foldable capsule buckle is safe and effective to treat rhegmatogenous retinal detachment with a relatively posterior position (≥15 mm from the back of the corneal limbus) with little damage to the ocular and easy to operate, compared with the difficulty and complexity in traditional scleral buckling surgery.

视网膜神经纤维层是视网膜的最内层，主要由来自视网膜神经节细胞的无髓鞘轴突组成，此外还有神经胶质细胞与视网膜血管，其厚度与年龄、眼球增长、眼底结构改变等因素相关。光学相干断层扫描可以清晰展示角膜、视网膜、脉络膜、视神经等高分辨率断层图像，可以在活体上显示生物学组织的细微结构，在临床与科研中已获得广泛应用。在青光眼视神经病变中，光学相干断层扫描可以发现视野异常前的视网膜神经纤维层损害，已成为青光眼早期诊断与视神经损伤程度检测的重要手段。除视神经病外，越来越多的研究表明许多视网膜血管疾病、神经元变性疾病等视网膜疾病也有视网膜神经纤维层的损伤。探讨视网膜疾病与神经纤维层的关系，将有利于进一步推进对视网膜疾病发病机制及病理改变的认识。本文就视网膜神经纤维层的定量评估与多种视网膜疾病的关系展开综述，为其在视网膜疾病中的应用提供参考。

The retinal nerve fiber layer, the innermost layer of the retina, consists mainly of unmyelinated axons from retinal ganglion cells, as well as glial cells and retinal blood vessels , the thickness of which is related to factors such as age, ocular growth and fundus structure changes. Optical coherence tomography (OCT) can clearly display the cornea, retina, choroid, optic nerve and other high-resolution tomography images. It can show the fine structure of biological tissues in vivo, which has been widely used in clinical and scientific research. In glaucomatous optic neuropathy, OCT can detect the damage of retinal nerve fiber layer before abnormal visual field, which has become an important means of early diagnosis of glaucoma and detection of the degree of optic ner ve damage. In addition to optic neuropathy, more studies have shown that many retinal diseases such as retinal vascular diseases and neurodegenerative diseases also have retinal nerve fiber layer injury. Exploring the relationship between retinal diseases and nerve fiber layer will be beneficial to further promote the understanding of the pathogenesis and pathological changes of retinal diseases. This paper reviews the relationship between the quantitative evaluation of retinal nerve fiber layer and various retinal diseases, and provides reference for its application in retinal diseases.

玻璃体视网膜疾病并发白内障患者行玻璃体切割术联合超声乳化白内障摘除术，即前后节联合手术，是高效的手术方式，而后囊膜破裂(posterior capsular rupture,PCR)是超声乳化白内障摘除术的术中并发症之一，能够及时、有效地处理PCR，稳定、安全地植入人工晶状体(intraocular lens,IOL)，对于顺利完成后段手术，减少术后并发症十分重要。本文将对前后段联合手术中后囊膜破裂的术中处理、以及IOL光学部夹持固定法植入IOL的手术技术要点进行总结。

Combined surgery of pars plana vitrectomy (PPV) and phacoemulsification is an effective and safe way for management of retinal diseases complicated with cataract. Posterior capsular rupture (PCR) is one of the common intraoperative complications of phacoemulsification, and it is thus very important to deal with it promptly and efficiently, and ensure the subsequent procedures of intraocular lens (IOL) implantation as well as PPV. We will summarize the key points of the surgical technique for management of PCR and capture of IOL optic during combined surgery.

目的：分析免疫抑制状态下，无猫接触史、不伴玻璃体混浊且视网膜呈现大片状黄白色坏死灶的弓形虫视网膜炎患者的误诊原因及临床表现。 方法：病例系列研究。收集2021年9月—2023年4月于中山大学中山眼科中心确诊的不典型弓形虫视网膜炎患者临床资料,分析其误诊原因、临床表现及治疗预后。结果：纳入3例患者（5眼），患者均为女性，其中1例对侧眼1年前诊断为“葡萄膜炎”导致无光感，其余2例均为双眼先后发病。年龄为31~34岁，从发病到确诊，病程1~2个月。3例患者均无猫接触史。均因全身疾病而使用大剂量免疫抑制药物：2例为慢性系统性红斑狼疮患者，不规则治疗后出现复发；1例患者因“暴发性肝坏死”，进行肝移植手术，术后使用免疫抑制抗排斥药物。眼底检查显示玻璃体无明显混浊，眼底图上有大片状黄白色视网膜病灶，在光学相干断层扫描（optical coherence tomography, OCT）上表现为坏死样改变。首诊均误诊为急性视网膜坏死或巨细胞病毒性视网膜炎，2例患者还伴有EB病毒阳性，行局部及全身抗病毒治疗，视力进一步下降伴坏死灶进一步扩大。转诊至中山大学中山眼科中心后，补充房水检测均提示弓形虫DNA强阳性。予抗弓形虫治疗后视网膜坏死灶明显吸收，视力提高。结论：在免疫抑制状态下，弓形虫视网膜炎可表现为非典型的大片状视网膜坏死、无玻璃体混浊及无猫接触史，易被误诊为其他视网膜炎症。临床医生应高度警惕免疫抑制人群中弓形虫视网膜炎的可能性，及时进行房水弓形虫DNA检测有助于明确诊断并改善预后。

Objective: Vitreous opacity and cat contact history are two major diagnostic criteria for toxoplasmic retinochoroiditis. This study aimed to explore the causes of misdiagnosis and the clinical manifestations of patients with toxoplasmic retinochoroiditis who present with large yellowish-white necrotic retinal lesions but lack both a history of cat exposure history and vitreous opacity. Methods: This was a case series study. We collected clinical data from three patients diagnosed at Zhongshan Ophthalmic Center, Sun Yat-sen University between September 2021 and April 2023. All patients presented without a history of cat contact or vitreous opacity.The causes of misdiagnosis, clinical features, and treatment outcomes were analyzed. Results: The study included three patients (five eyes), all of them were female. One patient had no light perception in the contralateral eye after a 3-year disease course, while the other two exhibited bilateral involvement. The patients’ ages ranged from 31 to 34 years, and the duration of symptoms before diagnosis was 1–2 months. None reported exposure to cats, but all were immunocompromised: two had systemic lupus erythematosus (SLE) with irregular treatment and relapse, and one had underwent liver transplantation for "fulminant hepatic necrosis" and was receiving post-transplant immunosuppression. Fundus examination revealed no vitreous opacity, and retinal lesions appeared as large yellowish-white changes on fundus photography and necrotic changes on optical coherence tomography(OCT). Initially, all cases were misdiagnosed as acute retinal necrosis or cytomegalovirus retinitis, with 2 cases testing positive for herpesvirus DNA. Antiviral therapies were applied, which led to worsened vision and progression of the lesions. Subsequent referral testing of aqueous humor confirmed the presence of Toxoplasma gondii DNA. Anti-toxoplasma treatment resulted in significant resolution of the lesions and improvement in vision. Conclusions: In immunocompromised individuals, the presence of large necrotic retinal lesions without vitreous opacity or a history of cat exposure should raise suspicion for toxoplasmic retinochoroiditis. This awareness is crucial to prevent delayed diagnosis and subsequent vision loss.