年龄相关性黄斑变性(age-related macular degeneration,AMD)是一种发生在黄斑区的退行性变，其中湿性年龄相关性黄斑变性(wet age-related macular degeneration,wAMD)以黄斑区新生血管为主要病理特征，是导致老年人视力受损甚至失明的重要原因，视网膜下纤维化是wAMD最常见的自然后遗症，可导致光感受器、视网膜色素上皮(retinal pigment epithelial,RPE)和脉络膜毛细血管受损，导致不可逆转的中心视力丧失。多种基线特征被发现是视网膜下纤维化的危险因素，可用于预测早期视网膜下纤维化的发生。迄今为止，还没有有效的抗纤维化治疗方法，抗血管内皮生长因子(anti-vascular endothelia growth factor, anti-VEGF)治疗是wAMD的一线治疗方案，该治疗方法不能改善视网膜下纤维化，但及时启动治疗可能有助于预防或延缓纤维化的进展，目前多种靶向分子药物正被研发用于抗纤维化的治疗。该文综述了wAMD视网膜下纤维化的临床表现及意义、预测纤维化形成的基线特征、基本发病机制及潜在的抗纤维化治疗方法，旨在为临床诊治工作提供参考。
Age-related macular degeneration (AMD) is a degenerative disease of the macular, and wet age-related macular degeneration(wAMD) is mainly characterized by macular neovascularization, which is an important reason of visual impairment or even blindness in the elderly. Subretinal fibrosis is the most common natural sequelae of wAMD, which can lead to irreversible central vision loss by damaging photoreceptors, RPE, and choroidal capillaries. Multiple baseline features have been identified as the risk factors for subretinal fibrosis, which can be used to predict the early subretinal fibrosis. Heretofore, no anti fibrotic treatment method is effective. Anti vascular endothelial growth factor (anti VEGF) treatment is the first-line treatment for wAMD. This therapy cannot improve subretinal fibrosis, but timely initiation of treatment may help prevent or delay the progression of fibrosis. Currently, multiple targeted molecular drugs are being developed for anti fibrotic treatment. This article reviews the clinical manifestations and significance of subretinal fibrosis in wet age-related macular degeneration, baseline features for predicting the formation of fibrosis, basic pathogenesis, and potential anti-fibrosis treatment methods,aiming to provide reference for clinical diagnosis and treatment.
患者女，60岁，因“右眼前黑影飘动1月，视力下降8天”就诊。视力：右眼0.1，不能矫正；左眼0.6矫正0.9。右眼眼底见视盘周围边界清晰不规则灰白色区，并波及中心凹。视野检查：右眼对应眼底病灶的视野缺损；左眼正常。光学相干断层成像术(optical coherence tomography，OCT)显示灰白色区域椭圆体带不规则、缺失，视网膜色素上皮(retinal pigment epithelium，RPE)层见数个指状隆起。眼底自发荧光(autofluorescence，AF)示：受影响区域内呈高荧光和部分不规则低荧光区。荧光素眼底血管造影(fundus fluorescein angiography，FFA)示：早期见荧光渗漏，晚期荧光着染、蓄积。吲哚菁绿血管造影(indocyanine green angiography，ICGA)示：见以视乳头为中心，边界清晰的低荧光区。诊断：右眼急性轮状外层视网膜病变。治疗：给予抗炎和改善血循环4周，眼底灰白色环状带消失，视力明显好转。随访6个月，患者病情控制良好。
A 60-year-old woman was admitted to Chengdu Aidi Eye Hospital because of “dark shadow fluttering in the right eye for 1 month and vision loss for 8 days”. Visual acuity—with a myopic correction—was 0.1 with the right eye and 0.9 with the left eye. The right eye fundus presented a well-defined, irregular, grayish white area around the optic disc, and affected the fovea, corresponding to the visual field defect of the fundus lesion. Optical coherence tomography (OCT) showed that the ellipsoid bands in this region were irregular and absent, and several finger-like ridges were seen in the retinal pigment epithelium (RPE) layer. Fundus autofluorescence (AF): High fluorescence and some irregular low fluorescence in the affected area. Fundus fluorescein angiography (FFA): Fluorescence leakage was seen in the early stage, fluorescence staining and accumulation in the late stage. Indocyanine green angiography (ICGA): A well-defined low-fluorescence area centered on the optic nipple was observed. Diagnosis:Acute annular outer retinopathy. Treatment: Anti-inflammatory and improved blood circulation for 4 weeks, the gray and white ring of fundus disappeared and the visual acuity improved obviously
孔源性视网膜脱离(rhegmatogenous retinal detachment,RRD)是一种严重威胁视力的眼部疾病，目前治疗手段以手术为主，手术方式主要有视网膜气体填充术(pneumatic retinopexy,PR)、巩膜扣带术(scleral buckling,SB)以及经睫状体扁平部玻璃体切割术(pars plana vitrectomy,PPV)。目前对于RRD手术术式的选择仍然存在争议，因此研究及制定RRD手术方式抉择的临床策略具有重要的临床意义。而临床上制定RRD患者手术方案往往与患者的年龄、视网膜脱离时间、裂孔的类型、位置、数量、大小等等临床因素有关，该文就影响孔源性视网膜脱离手术抉择的相关临床因素进行综述。
Rhegmatogenous retinal detachment (RRD) is a serious eye disease threatening vision. Surgery is main treatment currently, and surgery approaches include pneumatic retinopexy (PR), scleral buckling (SB), and pars plana vitrectomy(PPV). There is still controversy over the selection of RRD surgery approaches, so it is great significant to study and develop clinical strategies for RRD surgery approaches. The surgical plans for RRD patients are often related to clinical factors, such as the patient’s age, retinal detachment time, type, location, quantity, size, etc. This article reviews the related clinical factors affecting the surgical decision for rhegmatogenous retinal detachment.
目的：评价欧堡Daytona 200度超广角激光扫描检眼镜检查近视患者眼底周边部视网膜病变的应用价值。方法：本研究为前瞻性病例研究，收集爱尔眼科医院要求行屈光手术的近视患者1 000例(2 000只眼)，分别进行小瞳下欧堡Daytona 200度超广角激光扫描检眼镜眼底检查和散瞳后三面镜检查，记录检查结果并进行比较分析。结果：通过欧堡Daytona 200度超广角激光扫描检眼镜检查发现有周边视网膜病变共230例(310只眼)，检出阳性率为15.50%；三面镜检查发现周边部视网膜病变共242例(322只眼)，检出阳性率为16.10%。两种检查方法对近视患者周边部视网膜病变检出阳性率具有很好的一致性(Kappa值0.8~1.0)。结论：欧堡Daytona 200度超广角成像系统为检查周边部视网膜病变提供了更省时高效的方法，在屈光手术前筛查视网膜周边部病变，具有广阔的临床应用前景。
Objectives: To evaluate the clinical value of peripheral retinal diseases in myopic patients examined by 200-degree ultra-wide field laser ophthalmoscope (Daytona). Methods: This was a prospective case-control study. We collected 1 000 myopic patients (2 000 eyes) who were scheduled to undergo refractive surgery in Aier Eye Hospital. They were examined by 200-degree ultra-wide field laser ophthalmoscope (Daytona) with non-mydriasis and three-mirror contact lens with mydriasis. The examination results were recorded and statistically analyzed. Results: A total of 230 cases (310 eyes) with peripheral retinopathy were found by 200-degree ultra-wide field laser ophthalmoscope (Daytona). The positive rate was 15.50%; 242 cases (322 eyes) with peripheral retinopathy were found by three- mirror contact lens, and the positive rate was 16.10%. The two methods were consistent in the detection of peripheral Retinopathy in myopic patients (the Kappa value is between 0.8 and 1.0). Conclusion: 200-degree ultra-wide field laser ophthalmoscope (Daytona) is an effective and rapid method for detecting peripheral retinopathy. It provides a broad clinical application prospects for peripheral retinopathy screening before refractive surgery.
报告1例2019年1月因无色素性视网膜色素变性而就诊的病例。患者因发现视力差，常规眼科检查及全身的检查未发现异常，给予眼底荧光造影后确诊。给予眼底荧光造影后最终确诊为罕见的无色素性视网膜色素变性，防止了疾病的漏诊和误诊。对于缺乏视网膜色素变性典型的三联征的无色素性视网膜色素变性患者，临床要谨防漏诊，眼底荧光血管造影(fundus fluorescein angiography，FFA)可明确诊断。
We reported a case of achromatic retinitis pigmentosa admitted to the hospital in January 2019. The patient was diagnosed by fundus fluorescein angiography because of poor vision, and no abnormality was found by routine ophthalmological examination and general examination. After fundus fluorescein angiography (FFA), a rare non-pigmented retinitis pigmentosa was finally diagnosed, which prevented misdiagnosis and missed diagnosis of the disease. For the patients without typical triad of retinitis pigmentosa, we should pay attention to missing the diagnosis in clinical practice. FFA can make a definite diagnosis of retinitis pigmentosa.
结节性硬化症(tuberous sclerosis complex，TSC)是一种累及多系统的常染色体显性遗传病，早期呈单一表现，容易漏诊、误诊，以眼部症状为首发特征的新生儿期病例少有报道。本文报告1例早产男婴，出生后1 d眼底筛查发现右眼视网膜散在多个灰白色半透明隆起灶及脱色素斑，回溯胎儿期超声心动图异常高度怀疑TSC，进一步行头颅MRI检查及家族基因检测，在新生儿期明确了这一诊断。
Tuberous sclerosis complex is a multisystemic disease with an autosomal dominant inheritance pattern. Missed diagnosis and misdiagnosis are common for patients with single manifestation in the early stage. There are few documented neonatal cases with ocular symptoms as primary presentation. Here we report a newborn boy presented with retinal hamartoma, retinal achromic patch, fetal cardiac rhabdomyoma and subependymal nodules.Subsequent genetic tests confirm a diagnosis of TSC.
目的：观察视网膜激光光凝术(laser photocoagulation，LP)及玻璃体腔注射雷珠单抗(intravitreal ranibizumab，IVR)对病变位于II区的阈值前病变1型早产儿视网膜病变(retinopathy of prematurity，ROP)的疗效。方法：收集2015年10月至2019年12月厦门市儿童医院收治的病变位于II区的阈值前病变1型44例(81眼)。根据手术方式分为LP组、IVR组。观察各组术后病变消退、视网膜血管化情况、全身及眼部并发症，分析不同手术方式的效果。结果：LP组20例(37只眼)行视网膜激光光凝治疗，术后未出现复发，首次治愈率100%；术后(3.42±1.57)周病情控制，术后(9.84±4.75)周可观察到周边视网膜血管化。IVR组24例(44只眼)注射雷珠单抗，39只眼行单次手术后病情控制，首次治愈率88.6%，5眼术后病情未控制。术后(2.95±2.58)周病情控制，术后(14.19±4.95)周可观察到周边视网膜血管化。两组手术方式首次治愈率、视网膜血管化时间差异有统计学意义(P<0.05)。结论：视网膜LP及IVR治疗病变位于II区的阈值前病变1型均有较好疗效，IVR复发率较高，手术方式的选择需慎重。
Objective: To observe the efficacy of laser photocoagulation (LP) and intravitreal ranibizumab (IVR) injection in the treatment of type 1 prethreshold retinopathy of prematurity (ROP) with lesions located in zone II. Methods:Forty-four patients (81 eyes) with type 1 prethreshold retinopathy of prematurity with lesions located in zone II staying in our hospital from October 2015 to December 2019 were collected and divided into LP group and IVR group according to the operation method. Through observation of the postoperative disease involution, retinal vascularization, systemic and ocular complications in each group, the effects of different surgical methods were analyzed. Results: In LP group, 20 patients (37 eyes) underwent retinal laser photocoagulation treatment, with no recurrence occurred after the operation; the cure rate after the first operation was 100%; the disease was controlled at (3.42±1.57) weeks after the operation; and peripheral retinal vascularization was observed at (9.84±4.75) weeks after the operation. In IVR group, 24 patients (44 eyes) were injected with ranibizumab; 39 eyes were under control after a single operation; the cure rate after the first operation was 88.6%; and 5 eyes were not under control after surgery. The disease was controlled for an average of (2.95±2.58) weeks after operation; peripheral retinal vascularization was observed at (14.19±4.95) weeks after operation; there were statistically significant differences in the cure rate after the first operation and retinal vascularization time between the two groups. Conclusion:Retinal laser photocoagulation and IVR have good effects in the treatment of type 1 prethreshold retinopathy of prematurity with lesions located in zone II. However, the recurrence rate using IVR is relatively high. Therefore,the surgical method needs to be cautious and still requires clinical observation.
目的：玻璃膜疣主要成分胆固醇对人视网膜色素上皮细胞ARPE-19中细胞膜钙ATP酶1(plasma membrane Ca2+ ATPase 1，PMCA1)、L型电压依赖性钙离子通道(L-type voltage-dependent calcium channel，LVDCC)和细胞膜钠钙交换蛋白1(sodium calcium exchange protein 1，NCX1)表达的影响。方法：体外培养ARPE-19细胞，将细胞分为对照组和胆固醇处理组(2.5 mg/mL)，取样时间为0、6、12、24、48、72 h。通过实时定量PCR检测PMCA1、LVDCC和NCX1 mRNA的表达水平，用蛋白质印迹法检测蛋白质的表达水平。结果：主要负责细胞内钙离子外排的PMCA1的mRNA和蛋白表达水平在胆固醇处理下出现下调。在胆固醇处理下，钙流入通道LVDCC和钙稳态调控蛋白NCX1的mRNA和蛋白表达明显增多，并且呈现时间依赖性，都是在24 h或48 h表达最多后出现回落。其中LVDCC表达上调倍数较大。结论：玻璃膜疣主要成分胆固醇可以影响人视网膜色素上皮细胞中钙转运通道蛋白的表达，PMCA1的表达受到胆固醇抑制， LVDCC和NCX1的表达受到胆固醇处理上调。这可能会影响细胞内钙离子外排，引起钙离子内流，是否能进一步导致细胞内钙超载而引起细胞凋亡，值得探讨。
Objective: To study the effects of cholesterol, the main component of drusen, on the expression plasma membrane Ca2+ ATPase 1 (PMCA1), L-type voltage-dependent calcium channel (LVDCC) and cell membrane sodium calcium exchange protein 1 (NCX1) of ARPE-19 cells. Methods: The ARPE-19 cell line was cultured in vitro, and the cells were divided into a control group and a cholesterol treatment group (2.5 mg/mL). The treatment time was 0, 6, 12, 24, 48, 72 hours. Real-time quantitative PCR was used to detect the expression of PMCA1, LVDCC and NCX1 at the mRNA level, and western blot was used to detect the expression at the protein level. Results: The mRNA and protein expression levels of PMCA1 which mainly responsible for the efflux of intracellular calcium ions, was down regulated under cholesterol treatment. Meanwhile, the expression of the mRNA and protein of the calcium inflow channel LVDCC and calcium stability regulatory protein NCX1 were significantly increased, and the time-dependency was present, which was up expressed to 24 or 48 h and then fell back. Among them, the LVDCC expression had a large number of times. Conclusion: Cholesterol, the main component of drusen, can affect the expression of calcium channels in human retinal pigment epithelial cells. The expression of PMCA1 was suppressed by cholesterol, and expression of LVDCC and NCX1 were up-regulated with cholesterol treatment, which may affect intracellular calcium efflux then cause calcium influx. Whether it can further cause intracellular calcium overload and cell death is worth exploring.
目的：分析46例双眼视网膜母细胞瘤(retinoblastoma，RB)的临床特点及治疗效果。方法：回顾性分析2008年12月至2019年12月重庆市陆军军医大学陆军特色医学中心收治的46例接受静脉化疗联合经瞳孔温热疗法(transpupillary thermotherapy，TTT)或眼摘治疗的双眼RB住院患儿的临床资料，对患儿的保眼率、摘眼率、视力情况及化疗不良反应进行评估。结果：46例患儿中，男27例，女19例，初诊年龄为(13.21±11.13)个月。单纯化疗10例，化疗+TTT治疗11例，化疗+TTT+眼摘治疗17例，化疗+冷凝治疗2例，化疗+冷凝+眼摘治疗6例。46例92眼总保眼率73.1%(57/78)，残留视力眼占64.1%(50/78)，各期保眼率：A、B期均100.0%，C期86.7%，D期94.1%，E期35.7%。手术摘除24眼，总摘眼率26.1%(24/92)，E期手术摘除21眼，占E期患眼60.0%(21/35)。平均化疗(4.1±1.9)次，化疗的骨髓抑制主要表现为白细胞减少、血小板减少及血红蛋白减少。46例患儿随访时间(35.4±23.8)个月，死亡7例，总病死率15.2%(7/46)；存活39例，总存活率为84.8%(39/46)，5年累积生存率为80.2%。结论：静脉化疗联合局部治疗总体疗效较好，在双眼RB患儿治疗中占据重要地位。化疗具有骨髓抑制作用，停止化疗后骨髓抑制逐渐恢复。
Objective: To analyze the clinical characteristics and therapeutic effect of 46 patients with bilateral retinoblastoma(RB). Methods: The clinical data of 46 patients with bilateral retinoblastoma who received intravenous chemotherapy combined with transpupillary thermotherapy (TTT) or enucleation from December 2008 to December 2019 in our department were analyzed retrospectively. The eye salvage rate, enucleation rate, visual acuity, and chemotherapy side effects were evaluated. Results: The 46 enrolled patients were 27 males and 19 females, at an average age of (13.21±11.13) months at the first visit. Among them, 10 received chemotherapy, 11 received chemotherapy combined with TTT, 17 received chemotherapy combined with TTT and enucleation,and 2 received chemotherapy combined with freezing, 6 received chemotherapy combined with freezing and enucleation. After treatment, 58 eyes were salvaged, with a total salvage rate of 73.1% (57/78), and the eyes that preserved vision account for 64.1% (50/78). The eye salvage rate in each stage were 100.0% for stage A and B, 86.7% for stage C, and 94.1% for stage D, 35.7% for stage E. Twenty-four eyes were enucleated, with a total enucleation rate of 26.1% (24/92), and among 35 eyes at stage E, 21 eyes were enucleated, accounting for 60.0%(21/35). The average time of chemotherapy was 4.1±1.9 and the myelosuppressive effects of chemotherapy include leucopenia, thrombocytopenia and hemoglobinopenia. During the mean follow-up time of (35.4±23.8) months, 7 (15.2%) patients died, and 39 (84.8%) cases survived. The 5-year cumulative survival rate was 80.2%. Conclusion: Intravenous chemotherapy combined with local treatment has a good overall effect and plays an important role in the treatment of bilateral retinoblastoma. Intravenous chemotherapy leads to myelosuppression, and the myelosuppression gradually recovered after stopping intravenous chemotherapy.
目的：分析各种病因摘除眼球的患儿中视网膜母细胞瘤(retinoblastoma，RB)的误诊率，并总结其临床和病理特点。方法：回顾性分析2003年以来在中山眼科中心因临床诊断为RB并接受眼球摘除的患者563例(577眼)，比较术前临床诊断和术后病理诊断，从中筛选出误诊病例，分析这些病例的临床和病理特点，包括患者年龄、性别、治疗过程、临床影像学、肿瘤病理分期、病理诊断以及分化程度。结果：共发现误诊病例22例(22眼)，误诊率3.91%，所有误诊病例均为单眼摘除患者。常见的临床误诊类型为：与Coats病相混淆12例(12眼)，与眼内炎症反应混淆5例(5眼)，以及与眼内其他肿瘤混淆5例(5眼)。所有患者中，>4岁者55例，其中误诊12例，误诊率21.82%。结论：与RB相关的临床误诊并不罕见，其中最常见的误诊病因是Coats病，>4岁患者是误诊的主要人群。
Objective: To investigate the misdiagnosis rate in enucleated eyes for retinoblastoma (RB), analyze the clinicopathological features and summarize differential diagnosis. Methods: Retrospective analysis was performed on 563 cases (577 eye) undergoing eyeball enucleation in Zhongshan Ophthalmic Center Sun Yat-sen University since 2003. Misdiagnosed cases were screened out by comparing the preoperative clinical diagnosis and postoperative pathological diagnosis. The clinical and pathological features of those misdiagnosed caseswere summarized, including age, gender, therapeutic process, imagological examination, pathological stage and pathological diagnosis. Results: Twenty-two cases had been misdiagnosed, which account for 3.91% of 563 enucleated eyeball cases. All of misdiagnosed cases had underwent monocular eyeball enucleation. Diseases that were easily misdiagnosed with RB were Coats disease (12/22), endophthalmitis (5/22) and other intraocular tumor (5/22). Among all patients, 55 patients were older than 4 years old, of which 12 cases were misdiagnosed,with a misdiagnosis rate of 21.82%. Conclusion: It is not unusual for clinical misdiagnosis of RB. Coats disease is the most frequent cause of RB misdiagnosis. Misdiagnosis rates is higher in patients over 4 years old.
