角膜是基因治疗的理想靶器官。角膜碱烧伤、角膜新生血管、角膜移植术后排斥反应因其病理机制复杂，所牵涉的致病因素众多而治疗困难，疗效不佳。本文就基因治疗在上述疾病中的应用加以综述，以了解基因治疗应用于角膜病变的新进展 。
Cornea is an ideal target organ for gene therapy. Corneal alkali burn, cornealneovascularization and corneal graft rejection tend to be with poor treatment elicacydue to its complex pathogenesis. This article aims to update the recent progress of genetherapy on corneal diseases.
髓上皮瘤是源自神经系统的一种少见的恶性肿瘤, 多发生在中枢神经系统和睫状体,而源自视神经的恶性髓上皮瘤则很少见, 国内尚未有病例报道。此病早期类似胶质瘤, 易造成误诊。本文报道了 1 例 3 岁 10 个月的男性患儿, 经部分肿物切除活检发现肿瘤具有典型恶性髓上皮瘤的病理特点, 部分瘤细胞向软骨细胞分化, 并逐渐形成透明软骨岛, NSE 及 S-100 表达阳性, 病理诊断为源自视神经的畸胎性恶性髓上皮瘤。
Medulloepithelioma is a clinically uncommon tumor originated from nervous system, often occurred in central nerve system and ciliary body, and malignant medulloepithelioma of the optic nerve is far rarer. So far, there has been no case report in China. It may be clinically misdiagnosed because it resembles glioma at the early stage of the disease. We reported a boy with a tumor in his right eye at age of 3.8 years, which was shown by biopsy of the partial tumor that there were some obviously heteromorphous neoplastic cells, karyokinesis, and moreover, some neoplastic cells differentiatied into cartilage cells, gradually formed into hyaline cartilage islands and the expressions of NSE and S-100 were positive. Teratoid malignant medulloepithelioma of optic nerve was made pathologically.
目的：探讨眼眶黏膜相关淋巴组织(mucosa-associated lymphoid tissue，MALT)结外边缘区B细胞淋巴瘤的临床表现、影像学特征及病理学特点，以期减少眼眶淋巴瘤的误诊，提高生存率。方法：对2020年1月至2020年12月中山大学中山眼科中心诊治的71例眼眶MALT结外边缘区B细胞淋巴瘤的临床、影像及病理学资料进行回顾性分析。结果：71例患者中，男38例，女33例；左侧眼眶31例，右侧眼眶34例，双侧眼眶6例；原发病例67例，复发病例4例；年龄23~84岁，病程为3个月~15年。最常见的临床表现是眼部肿块和不同程度的眼球活动受限；磁共振成像(magnetic resonance imaging，MRI)检查见密度均匀的软组织影，呈“铸造样”，眼球内未见侵犯；组织病理检查可见肿瘤由小至中等大小淋巴样细胞组成，瘤细胞呈弥漫或片状生长，核小到中等、不规则，核仁不明显，部分细胞呈单核样淋巴瘤细胞改变，其中9例可见浆细胞样分化，伴浆细胞分化的病例kappa与lambda的表达不对称。结论：眼眶MALT结外边缘区B细胞淋巴瘤有多种临床表现，影像学检查具有一定的特征，可辅助术前诊断。病理学检查可用于术后的准确诊断及分型，据此制定合适的治疗方案，提高疗效。
Objective: To investigate the clinical, imaging and pathological features of orbital extranodal marginal zone B cell lymphoma of mucosa-associated lymphoid tissue (MALT), so as to reduce misdiagnosis and improve survival rate.Methods: The clinical, imaging and histopathological data of 71 patients with orbital extranodal marginal zone B cell lymphoma of MALT who were treated in Zhongshan Ophthalmic Center, Sun Yat-sen University from Jan.2020 to Dec. 2020 were retrospectively analyzed. Results: There were 38 males and 33 females in the 71 patients.There were 31 cases located on the left orbit, 34 cases on the right orbit, and 6 cases were bilateral; there were 67 primary cases and 4 relapsed cases. The age ranged from 23 to 84 years old. The disease course ranged from 3 months to 15 years. The main clinical manifestations included ocular masses and limited eyeball movement.Magnetic resonance imaging showed a “cast-like” soft tissue shadow of uniform density, and no intraocular invasion is observed. Histopathological examination showed that the tumor was composed of small to medium sized lymphocyte-like cells. Tumor cells exhibited diffuse or lamellar growth, with small to medium-sized irregular nuclei, and the nucleoli were inconspicuous. Some of the lymphocyte-like cells showed mononuclear lymphoma cells changes, and plasmacytoid differentiation was observed in 9 cases, in which kappa and lambda expressions were asymmetric.Conclusion: The clinical manifestations of orbital extranodal marginal zone B cell lymphoma of MALT are various, and imaging examination has certain characteristics, which can assist preoperative diagnosis.Pathological examination can be used for accurate diagnosis and classification after operation, based on which appropriate treatment plan can be made and curative effect can be improved.
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.
目的：探索用细胞块制备试剂盒对眼内玻璃体液微量细胞制备细胞块的成功率，苏木素-伊红(hematoxylin-eosin，HE)染色效果及技术要点。方法：收集中山大学中山眼科中心临床病理科2020年9月至2021年1月由临床送检的25例玻璃体液(含玻璃体切割液)，应用细胞块制备试剂盒制备细胞块后，常规固定、脱水、包埋、切片，随后进行HE染色，观察染色效果。结果：25例玻璃体细胞蜡块制作成功率达到100%，制片后HE染色效果好，背景干净，细胞形态清晰，核质对比分明。结论：应用细胞块制备试剂盒能将眼内玻璃体液微量细胞制成蜡块，极大提高了标本的利用率，为后续的病理研究提供丰富的材料。
Objective: To explore the effect and technical key points of the cell block preparation kit for collecting a few cells in ocular vitreous humor. Methods: A total of 25 cases of vitreous humor (including vitrectomy fluid) were collected from Zhongshan Ophthalmic Center, Sun Yat-sen University from September 2020 to January 2021.Cell block preparation kit was used to prepare cell blocks, which were routinely fixed, dehydrated, embedded,sectioned, and then hematoxylin-eosin (HE) stained. Results: The success rate of 25 cases of vitreous cell paraffinblocks reached 100%, and the morphology of the cells was clear with clean background and shape contrast of nucleus and plasma in HE staining. Conclusion: The cell block preparation kit can make the cells of intraocular vitreous humor into paraffin blocks, which greatly improves the utilization rate of specimens and is conducive to providing abundant materials for pathological studies.
目的：探索用细胞块制备试剂盒对眼内玻璃体液微量细胞制备细胞块的成功率，苏木素-伊红(hematoxylin-eosin，HE)染色效果及技术要点。方法：收集中山大学中山眼科中心临床病理科2020年9月至2021年1月由临床送检的25例玻璃体液(含玻璃体切割液)，应用细胞块制备试剂盒制备细胞块后，常规固定、脱水、包埋、切片，随后进行HE染色，观察染色效果。结果：25例玻璃体细胞蜡块制作成功率达到100%，制片后HE染色效果好，背景干净，细胞形态清晰，核质对比分明。结论：应用细胞块制备试剂盒能将眼内玻璃体液微量细胞制成蜡块，极大提高了标本的利用率，为后续的病理研究提供丰富的材料。
Objective: To explore the effect and technical key points of the cell block preparation kit for collecting a few cells in ocular vitreous humor. Methods: A total of 25 cases of vitreous humor (including vitrectomy fluid) were collected from Zhongshan Ophthalmic Center, Sun Yat-sen University from September 2020 to January 2021. Cell block preparation kit was used to prepare cell blocks, which were routinely fixed, dehydrated, embedded, sectioned, and then hematoxylin-eosin (HE) stained. Results: The success rate of 25 cases of vitreous cell paraffin blocks reached 100%, and the morphology of the cells was clear with clean background and shape contrast of nucleus and plasma in HE staining. Conclusion: The cell block preparation kit can make the cells of intraocular vitreous humor into paraffin blocks, which greatly improves the utilization rate of specimens and is conducive to providing abundant materials for pathological studies.
