目的：利用信息化手段，优化眼遗传病患者的随访途径，降低病历资料缺失率，助力临床检验科室高效运营。方法：通过态势分析法搜集需求，基于微信公众号平台“中山大学眼科医院小儿遗传”，搭建眼遗传病信息管理系统。根据是否使用眼遗传病信息管理系统、是否受到人员流动限制，将2017年7月1日—2023年11月30日来院进行基因检测的患者分为四组：传统组、传统+人流限制组、微信组和微信+人流限制组，通过χ2检验对眼遗传病信息管理系统进行性能评价。结果：源软件架设在阿里云电子政务平台的眼遗传病信息管理系统，通过加密通讯与医院网络交互。系统主要分为基因检测业务、数据管理和系统管理三大模块。使用该系统的患者或亲属可以在任意时间和地点，自主上传病历资料、签署知情同意书、查询基因检测报告，如有需要还能进行一对一的沟通实现长期随访。在此过程中，患者的临床信息实现数字化。研究共纳入10 662例患者对该系统进行性能评价，使用眼遗传病信息管理系统后，患者病历资料缺失率显著降低，由12.2%(传统+人流限制组)降至2.7%(微信+人流限制组)；患者二次来访率由最高的70%(传统组)降至最低的11.7%(微信组)；两类比较差异有统计学意义(P<0.001)。结论：眼遗传病信息管理系统的使用显著降低患者病历资料缺失率和眼遗传病患者的二次来访率。
Objective: To optimize the follow-up approach for patients with ophthalmic genetic diseases through informational technology, reduce the loss rate of cases, and facilitate the efficient operation of the clinical laboratory. Methods: Using the SWOT analysis method to collect requirements, ‘Pediatric Genetics of Zhongshan Ophthalmic Center’, an ophthalmic genetics information management system for ophthalmic genetic diseases was established on the Wechat public platform. Based on whether the ophthalmic genetic disease information management system was used and there were personnel mobility restrictions, patients who underwent genetic testing in the hospital for genetic testing from July 1, 2017, to November 30, 2023, were divided into four groups: traditional group, traditional+ lockdown group, Wechat+ lockdown group, and Wechat group. Te chi-square test was used to evaluate the performance of the ophthalmic genetic information management system. Results:The ophthalmic genetic disease information management system, which is based on open-source sofware and hosted on the Alibaba Cloud e-government platform, interacts with the hospital network through encrypted communication. Te system was divided into three modules: gene detection business, data management, and system management. By the system, patients or relatives can upload medical records, sign informed consent, inquire about genetic test reports at any time and anywhere, and conduct one-on-one communication to achieve long-term follow-up if necessary. In this process, the patient's clinical information was digitized. A total of 10,662 patients were included in the study to evaluate the performance of the system. The loss rate of cases was decreased from 12.2%to 2.7%, and the rate of second visits was reduced from 70% to 11.7%, which were statistically different, respectively (P< 0.001). Conclusion: Te application of the ophthalmic genetic information management system has signifcantly reduced the loss rate of cases and the rate of second visits in patients with ophthalmic genetic diseases.
遗传在儿童和青少年的眼耳功能障碍发病机制中起着重要作用。由于眼耳有共同的神经内、外胚层起源，具有相似的基因网络，所以当共同的基因发生致病性变异时会导致眼耳双重感觉丧失。有超过70多种病因与聋盲有关，常见的伴有听力异常并累及视神经和视网膜的综合征型眼遗传病，包括CHARGE综合征、Usher综合征、Stickler综合征、Alport综合征、Wolfram综合征、Waardenburg综合征等。其他如染色体和胚胎的异常也会出现导致眼耳发育障碍，如Down综合征、Dandy-Walker综合征等。一些已知的眼遗传病致病基因变异也可导致听力异常，如OPA1基因。由于遗传异质性，眼耳综合征的临床诊断往往很困难，尤其是对婴幼儿。了解遗传综合征中眼耳相关临床特征，有利于早期发现和正确诊断；而当综合征中眼部表型不典型，可以通过耳部等其他系统表型协助诊断。同时，明确诊断对终生视觉和听觉功能的监测，以及与优生遗传咨询均有重要意义。
Heredity plays an important role in the pathogenesis of eye and ear dysfunction in children and adolescents. Because of common neural endodermal and ectodermal origins, the eyes and ears have the similar networks of genes Therefore, when pathogenic mutations occur in common genes, it can lead to loss of double sensation in the eyes and ears. There are more than 70 etiologies associated with the deafblindness, including CHARGE, Usher, Down, Stickler, Alport, Wolfram and Waardenbur syndromes, which are the most common syndromic ophthalmic genetic diseases with hearing and optic nerve/retinal abnormalities. Other abnormalities such as chromosomal and embryonic abnormalities can also lead to hearing and vision impairment, like Down and Dandy Walker syndromes. Some known genetic variants in ocular genetic diseases can also lead to hearing loss, such as OPA1 gene. Due to genetic heterogeneity, the clinical diagnosis of ocular and ear syndrome is often difficult, especially for infants and young children. With understanding the clinical features of eyes and ears in genetic syndrome,is conducive to early detection and accurate diagnosis, and when the ocular phenotype in the syndrome is atypical, it can be assisted by other systematic phenotypes such as the ear. At the same time, clear diagnosis is important for lifelong monitoring of visual and auditory function, as well as for eugenic genetic counseling.
