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.

木村病(Kimura disease，KD)是一种罕见的、病因不明的、可能由免疫介导的慢性进行性炎症性疾病。本文分析1例8岁的男性患者，因左眼无痛性上睑下垂、影像学提示双眼泪腺占位、血象提示嗜酸性粒细胞及免疫球蛋白E(immunoglobulinE，IgE)水平升高、病理提示大量嗜酸性粒细胞浸润，被最终诊断为累及双侧泪腺的KD。行左眼眶肿物切除术后，对患者随访6个月期间未见复发。

Kimura disease (KD) is a rare chronic progressive inflammatory disease of unknown etiology that may be immunemediated. Herein, we analyze an 8-year-old male patient who was diagnosed with painless ptosis in the left eye, double tear glands on imaging, elevated levels of eosinophils and immunoglobulin E (IgE) on blood, and massive eosinophil infiltration on pathology. The final diagnosis was Kimura disease involving bilateral lacrimal glands. After resection of the left orbital tumor, no recurrence was observed in the six months postoperation follow-up

目的：研究“中山眼鼻相关疾病·内镜论坛”的培训效果及其影响因素。方法：采用调取平台数据和调查问卷的方法，研究2020年6月至2022年5月16期“中山眼鼻相关疾病·内镜论坛”的参与人员情况和培训效果反馈，并分析专业、职称、地域等因素对培训效果的影响。结果：学员合计7889人，27634人次，以副主任医师30.2%(2382人)和主治医师32.9%(2597人)为主。参与学员人数从第1期的269人，逐渐增加到第16期的2537人。学员参与人数最多和收获最大的主题均为应用解剖和影像学、甲状腺相关眼病、泪道疾病。通过调查问卷发现：75.4%(95/126)的学员认为所学内容对今后的临床工作具有非常大的作用；84.1%(106/126)的学员应用所学的知识改进了日常临床工作；96.0%(121/126)的学员愿意参加中山眼科中心举办的线下实操的眼鼻相关解剖学习班。对于所学知识在今后临床工作的作用，副主任医师和主治医师认为“非常有用”的比例明显高于主任医师。在是否将所学知识应用于日常临床工作方面，副主任医师和主治医师认为“是”的比例明显高于主任医师和住院医师。参与6~16次论坛的学员，培训效果明显优于参与1~5次的学员。结论：眼鼻相关疾病·内镜微创领域在眼科和鼻科领域关注度日益提升。“中山眼鼻相关疾病·内镜论坛”有助于学员理论知识的扩展和提升，对眼鼻相关疾病医生的日常临床工作具有很好的作用，主治医师和副主任医师职称的学员培训效果更好，参与论坛次数多的学员培训效果更好。

Objective: To assess the training effects of “Zhongshan Eye and Nose Related Diseases and Endoscopy Forums” and its influencing factors, propose targeted suggestions for training focus and teaching methods, and improve the teaching quality. Methods: Statistics of live broadcast platform data and custom-designed questionnaires were used to inquire the participants enrolled in the 16 sessions of “Zhongshan Eye and Nose Related Diseases and Endoscopy Forums” from June 2020 to May 2022 for their feedbacks on training effects. The influence of their professions, titles, regions and other factors on the training effects was analyzed. Results: A total of 7 899 participants were enrolled in “Zhongshan Eye and Nose Related Diseases and Endoscopy Forums”, and the total live broadcast person-time was 27 634. Associate senior doctors (30.2%, 2 382) and attending doctors (32.9%, 2 597) accounted for the largest proportion. The number of participants gradually increased from 269 in the first session to 2 537 in the 16th. The topics with the largest number of participants and the greatest gains were applied anatomy and imaging, thyroid associated ophthalmopathy, and lacrimal duct diseases. Through the questionnaire study, 75.4% (95/126) of the participants thought that what they had learned in the forums was very important for their future clinical work; 84.1% (106/126) of the participants applied the knowledge to improve their daily clinical work; 96.0% (121/126) of the participants were willing to participate in the offline practice of eye and nose anatomy classes held by Zhongshan Ophthalmology Center. In terms of the role of the learned knowledge in the future clinical work, the proportion of associate senior doctors and attending doctors who thought "very useful" was significantly higher than that of senior doctors. In terms of whether to apply the knowledge learned to daily clinical work, the proportion of associate senior doctors and attending doctors thinking “yes” was significantly higher than that of senior doctors and residents. Participants who participated in 6–16 sessions had significantly better training results than those who participated in 1–5 sessions. Conclusion: Eye and nose related diseases are attracting increasing attention in ophthalmology and rhinology. “Zhongshan Eye and Nose Related Diseases and Endoscopy Forums” are conducive to the expansion and improvement of participants’ theoretical knowledge, and plays a good role in the daily clinical work of doctors with eye and nose related diseases. The training effect of attending doctors and associate senior doctors is better, and the training effect of participants who participate in the forum more times is better.