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：探讨应用数字化广域成像系统RetCam3行婴幼儿口服荧光素钠眼底血管荧光造影(fluorescein fundus angiography，FFA)的护理。方法：选择2018年8月至2019年12月在广州中山大学中山眼科中心小儿眼病综合科就诊的眼底疾病婴幼儿78例，应用RetCam3进行口服法FFA检查及护理，将护理要点进行总结。结果：所有患儿安全、顺利完成检查，检查过程中均未发生异常病情变化或与检查、药物相关的并发症。经FFA确诊家族性渗出性玻璃体视网膜病变(familial exudative vitreoretinopathy ，FEVR)26例，早产儿视网膜病变(retinopathy of prematurity ，ROP)23例，色素失禁症患者6例；玻璃体积血患者3例；视网膜母细胞瘤患者3例；牵牛花综合征患者1例；视网膜色素变性患者3例；弓蛔虫眼病患者1例；原始永存玻璃体患者2例；不明原因眼底病变患者5例，单眼视网膜皱襞患者1例，先天性小眼球患者1例，巨细胞病毒感染患者1例，先天性黄斑发育不良患者1例；Coats病患者1例。结论：应用RetCam3行婴幼儿口服法FFA是一种安全、有效的检查方法。规范、恰当的护理配合能够保证检查准确、顺利地完成。
Objective: To share the nursing experience of RetCam3 ultra-widefield oral fluorescein fundus angiography (FFA) in infants with fundus diseases. Methods: Seventy-eight infants with fundus diseases admitted to General Department of Pediatric Ophthalmology in Zhongshan Ophthalmic Center, Sun Yat-sen University from August 2018 to December 2019 were recruited. Oral FFA was carried out using the 130-degree lens of RetCam3, and the key points of nursing were summarized. Results: No complications related to the examination and drugs occurred after oral FFA with an appropriate nursing manner. FFA confirmed 26 cases of familial exudative vitreoretinopathy, 23 cases of retinopathy of prematurity and 6 cases of pigment incontinence. Vitreous hematoma was observed in 3 patients, retinoblastoma in 3 patients, Morning Glory syndrome in 1 patient, retinitis pigmentosa in 3 patients, Ascaris lumbricoides eye disease in 1 case, original permanent vitreous body in 2 patients, unexplained fundus lesions in 5 patients, monocular retinal fold in 1 patient, congenital micro-eyeball in 1 patient, cytomegalovirus infection in 1 patient, congenital macular dysplasia 1 patient and Coats disease in 1 patient. Conclusion: Oral FFA with RetCam3 is an effective and safe detection method for infants. Standard and proper nursing can ensure the examination can be performed accurately and smoothly.
目前Wetlab眼科手术教学采用猪眼球作为教学模型，与实际手术差别较大，且无法满足外眼手术教学的需求。通过使用带有眼球、眼外肌、眶组织、眶骨及眼睑结构的全眼模型，可高度模拟真实手术场景，覆盖更多眼科手术教学需求。基于全眼模型构建多个眼科手术教学平台，依照培养阶段设计手术课程，创建新的评价体系，改变传统将“内眼”“外眼”分开的教学理念，可使年轻医师从一开始就建立眼科“分科而不分割”的整体思维，从而使眼科手术培训更加规范和完善。
Porcine eyes have been used as animal model in ophthalmic surgery training. However, it differs greatly from real surgery and cannot meet the needs of external eye surgery teaching. Porcine orbit model with eyeball, extraocular muscles, orbital tissue, bones and eyelids can be more realistic simulation of real surgeries and cover more needs for ophthalmic surgery teaching. By setting up ophthalmic surgery teaching platforms, designing staged course and creating new assessment methods based on porcine orbit model, the traditional concept about separation of internal and external eye is changed. This helps young doctors to establish a holistic view from the very beginning, that ophthalmic surgeries should not be split because of subspeciality. In this way, ophthalmic surgery training will become more standardized and perfected.
目的：采用角膜激光共焦显微镜观察研究颗粒状角膜营养不良家系患者的角膜状况。方法：采用角膜激光共焦显微镜对4例(6只眼)颗粒状角膜营养不良患者的角膜进行扫描检测，对比裂隙灯及普通显微镜观察分析检查情况。结果：颗粒状角膜营养不良患者的病变角膜裂隙灯下呈现面包屑样的灰白色混浊，在苏木精-伊红(hematoxylin-eosin，HE)染色中呈现出伊红染的颗粒，沉积于基质板层之间，在共焦显微镜下则为中高反光的团块，相互融合，并取代了基质细胞。结论：颗粒状角膜营养不良患者角膜病变从裂隙灯到普通HE染色下的显微镜，乃至高倍的共焦显微镜观察到的沉积物，分布情况相吻合，印证角膜病变发展的状况，有利于了解该病变的发展情况。
Objective: To observe and study the corneal in patients of family with granular corneal dystrophy by confocal laser scanning microscopy. Methods: The corneas of 4 patients (6 eyes) with granular corneal dystrophy were scanned by laser confocal microscopy, and the results were compared with those observed by slit lamp and ordinary microscope. Results: The image were gray and white bread-crumb-like opacity under the slit-lamp of cornea in patients of family with granular corneal dystrophy, were eosin-stained granules deposited between stroma layers in hematoxylin-eosin (HE) stain under the microscopy, were high reflective masses under the confocal laser scanning microscopy, which fused with each other. Conclusion: The image of the corneal in patients of family with granular corneal dystrophy were clearer and clearer by from Slit Lamp and microscopy to the confocal laser scanning microscopy. The distribution of sediments was consistent with each other. It can be a good understanding of the development of the disease.
目的：探讨血管生成拟态(vasculogenic mimicry，VM)与翼状胬肉初发型及复发型的相关性。方法：采用血小板-内皮细胞黏附分子/过碘酸雪夫(platelet endothelial cell adhesion molecule-1/periodic acid-schiff，CD31/PAS)免疫组织化学双重染色法检测139例翼状胬肉组织(初发型105例；复发型34例)和10例正常结膜中VM的表达，分析VM与初发型及复发型翼状胬肉的相关性及其与患者性别、年龄等因素的关系。原代培养人翼状胬肉成纤维细胞(human pterygium fibroblasts，HPFs)，免疫细胞化学染色法鉴定，利用三维培养及PAS染色观察初发型和复发型HPFs构成VM管腔个数的差异。结果：10例正常结膜均未见VM结构，初发型翼状胬肉VM阳性率43.81%，复发型翼状胬肉VM阳性率82.35%，差异具有统计学意义(P<0.001)。相关性分析显示VM与复发型翼状胬肉呈显著正相关(r=0.332)。不同性别、年龄及病程的翼状胬肉患者VM的表达差异均无统计学意义(均P>0.05)。原代培养的HPFs Vimentin表达阳性，符合成纤维细胞特性。细胞三维培养及PAS染色结果提示HPFs具有构建体外VM模型的能力，且复发型HPFs构成的VM管腔数明显高于初发型，差异具有统计学意义(P<0.01)。结论：翼状胬肉组织中存在VM结构，可作为其血供途径之一。VM与翼状胬肉的复发具有密切关系。
Objective: The purpose of this study was to investigate the correlation of vasculogenic mimicry in the primary and recurrent pterygium. Methods: Platelet endothelial cell adhesion molecule-1/periodic acid-schiff (CD31/PAS)immunohistochemical double staining method was adopted to detect the expression of VM in 139 cases of pterygium (105 cases of primary pterygium and 34 cases of recurrent pterygium)and 10 cases of normal conjunctival tissues. The correlation between VM and primary pterygium, recurrent pterygium and the factors such as gender and age of patients were analyzed. Human pterygium fibroblasts (HPFs) were primary cultured and identified by immunocytochemical staining. The differences in the number of VM channels between primary HPFs and recurrent HPFs were observed by three-dimensional culture and PAS staining. Results: There was no VM structure in 10 normal conjunctiva and the positive rate of VM was 43.81% in primary pterygium and 82.35% in recurrent pterygium with a significantly difference (P<0.001). Correlation analysis showed a significant positive correlation between VM and recurrent pterygium (r=0.332). There was no significant difference in the expression of VM in pterygium patients with different sex, age and course (all P>0.05). Vimentin was positive in the primary cultured cells, which was consistent with the characteristics of fibroblasts. The results of three-dimensional culture and PAS staining indicated that HPFs had the ability to construct VM model in vitro, and the number of VM channels constituted by recurrent HPFs was significantly higher than that by primary HPFs, the difference was statistically significant (P<0.01). Conclusion: VM exists in pterygium tissues, and it can be used as one of the blood supply routes, which is closely related to the recurrence of pterygium.
目的：分析发生于眶骨的占位性病变的CT表现及其与组织病理学之间的关系。方法：回顾性收集15例经临床表现、影像学特征、病理证实为发生于眶骨占位病变患者的临床资料，分析其CT检查、组织病理学切片及其他临床表现。结果：在15例患者中，经病理诊断为骨瘤的患者有4例，骨内血管瘤3例，骨样骨瘤和骨化性纤维瘤各2例，嗜酸性肉芽肿3例，尤文肉瘤1例。骨瘤由成熟板层骨构成，对应在CT上呈现为高密度的骨样结节状隆起；骨内血管瘤病理主要表现为骨小梁间的畸形血管，在CT上表现为典型的“栅栏状”“蜂窝状”特征；骨样骨瘤以骨样组织和结缔组织为主，在CT上为类圆形的高密度影，中央为典型的低密度“瘤巢“影，外周为增生的骨密度影；骨化性纤维瘤由增生的纤维组织及骨样组织构成，CT表现为肿瘤表面常有骨壳包绕，病变多呈圆形或椭圆形；嗜酸性肉芽肿主要由大量朗格汉斯细胞组成，对应CT上的软组织肿块影，可伴溶骨性破坏；尤文肉瘤以低分化的小圆细胞为主，CT表现为虫蚀样骨质破坏，破坏的骨组织间有软组织病变。结论：发生于眶骨的各类病变有其特有的病理组成，不同的病理组成在CT上表现出相应的影像特征。
Objective: To analyze computed tomography (CT) manifestations of space-occupying lesions of the orbital bone and their relationship with histopathology. Methods: The clinical data of 15 patients with orbital bone occupying lesions confirmed by clinical manifestations , imaging features and pathological symptoms features were retrospectively collected, and their CT examination, histopathological sections and other clinical manifestations were analyzed. Results: Among the 15 patients, 4 cases were pathologically diagnosed with osteoma, 3 cases of intraosseous hemangioma, 2 cases of osteoid osteoma and 2 cases of ossifying fibroma, 3 cases of eosinophilic granuloma and 1 case of Ewing’s sarcoma. Osteoma was composed of mature lamellar bones, which corresponded to a high-density osteoid nodular protuberance on CT. The pathological features of intraosseous hemangioma were mainly malformed blood vessels between bone trabeculae and typical “fence” and “honeycomb” features on CT. Osteoid osteoma was mainly composed of bone-like tissue and connective tissue, mainly showing round high-density shadow, typical low-density “tumor nest” shadow in the center, and hypertrophic bone density shadow in the periphery. Ossifying fibroma was composed of proliferative fibrous tissue and bone-like tissue. CT showed that the surface of the tumor was often surrounded by bone shell, and the lesions were mostly round or oval. Eosinophilic granuloma was mainly composed of a large number of Langerhans cells, which corresponded to the soft tissue mass on CT and could be accompanied by osteolytic destruction. Ewing’s sarcoma was mainly composed of poorly differentiated small round cells, and CT manifestations were worm-eaten bone destruction with soft tissue lesions between destroyed bone tissues. Conclusion: Various lesions occurring in the orbital bone have their own special pathological composition. Different pathological components show corresponding imaging features on CT.
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.
近5年来眼睑皮脂腺癌研究取得一系列成果。临床研究方面，明确了眼睑皮脂腺癌冰冻切缘控制显微手术的意义，提出了患者预后指标；在基础研究方面，描述了基因突变谱，揭示了3种相互独立的发病模式，以及提出了免疫及靶向治疗相关研究；我国眼肿瘤工作者也在眼睑皮脂腺癌研究方面树立了国际地位。本文对近5年国内外眼睑皮脂腺癌相关研究方面的主要成果进行总结分析，并展望治疗前景，为临床提供有益参考。
In recent 5 years, a series of studies have been made in the mechanism of onset of eyelid sebaceous carcinoma worldwide. In clinical research, the prognosis has made in predicting progression of patients with eyelid sebaceous carcinoma, and the significancy of frozen margin control in microsurgery was clarified. In field of basic research, from elucidation of mutational landscape to revelation of three independent pathogenesis patterns, from researches on immunotherapy to targeted therapy, efforts have been made to reveal the pathological mechanism to both aspect of its morbidity and development. This paper summarizes, analyzes and reviews the main achievements in recent 5 years on eyelid sebaceous carcinoma.
眼睑皮脂腺癌是起源于眼睑部位皮脂腺体的恶性上皮性肿瘤，易复发、转移，主要治疗方式仍以手术切除为主，但患者整体预后并不理想，早期正确诊断和靶向治疗是改善患者预后和改进治疗的关键。眼睑皮脂腺癌临床表现复杂，早期容易误诊或漏诊进而延误治疗，病理检查是其诊断的金标准。此外，目前关于眼睑皮脂腺癌发病机制未完全阐明，癌发生发展的分子生物学过程尚未明确。因此，多方面了解眼睑皮脂腺癌发病机制为靶向治疗提供理论基础是十分必要的。本文主要从眼睑皮脂腺癌发病机制包括遗传因素、表观遗传、外源病毒感染、免疫逃逸、端粒酶学说等方面对眼睑皮脂腺癌作一综述。
Eyelid sebaceous gland carcinoma is a malignant epithelial tumor originating from eyelid sebaceous glands, which is prone to relapse and metastasis. The treatment mainly depends on surgical excision, but the overall prognosis of patients is not ideal. Early diagnosis and targeted therapy are the keys to improve the prognosis of patients. Due to its complex clinical manifestations, early misdiagnosis or missed diagnosis is easy to delay treatment, and pathological examination is still the gold standard for its diagnosis. In addition, the pathogenesis of eyelid sebaceous gland carcinoma is still unclear, and the molecular biological process of the occurrence and development is less understood. Therefore, it is very necessary to understand the pathogenesis of eyelid sebaceous gland carcinoma in various aspects to provide a theoretical basis for targeted therapy. In this paper, the pathogenesis of eyelid sebaceous gland carcinoma was reviewed from the aspects of gene , epigenetic, viral infection, immune escape, , telomerase theory and so on.
Merkel细胞癌(Merkel cell carcinoma，MCC)是一种少见的高度恶性的皮肤原发性神经内分泌癌，发生于眼睑的MCC更加罕见。本文对2例眼睑MCC患者的临床病史和治疗过程进行回顾和总结。1例初发患者经手术彻底切除，效果良好，随访7年，未再复发；1例患者在外院切除术后2个月，于眼睑原位复发，再次行手术彻底切除，2个月后同侧腮腺淋巴结及颈前淋巴结扩散，目前仍在肿瘤科进一步放化疗中。复习相关文献并结合本组病例提示，MCC诊断主要依靠病理检查，彻底切除病灶并结合术后放化疗是其治疗的主要手段，免疫治疗是目前新的发展趋势。
The Merkel cell carcinoma (MCC) is a rare highly malignant primary neuroendocrine carcinoma of the skin, especially in the eyelids. In this report, the clinical history and treatment course of 2 patients with MCC of the eyelid were reviewed and summarized. Patient 1 with primary MCC of eyelid was treated with complete surgical excision, with good results. Follow-up for 7 years had shown no recurrence. Patient 2 with the eyelid relapse in situ two months after resection in another hospital, was treated with complete surgical excision again, but the tumor metastasized to the ipsilateral lymphonodi parotidici and cervical lymph nodes two months after the surgery. The patient is now going through radiotherapy and chemotherapy in oncology department. According to the review of literatures, the diagnosis was based on the pathologic evidence. Complete removal of lesion combined with postoperative radiotherapy and chemotherapy is a major means of treatment for MCC. Immunotherapy will play a more important role in the future.
