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 faciliate 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.