van Huet Ramon A C, Oomen Clasien J, Plomp Astrid S, van Genderen Maria M, Klevering B Jeroen, Schlingemann Reinier O, Klaver Caroline C W, van den Born L Ingeborgh, Cremers Frans P M
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Invest Ophthalmol Vis Sci. 2014 Nov 17;55(11):7355-60. doi: 10.1167/iovs.14-15317.
Inherited retinal diseases (IRDs) represent a clinical and genetic heterogeneous group of chorioretinal disorders. The frequency of persons affected by an IRD due to mutations in the same gene varies from 1 in 10,000 to less than 1 in a million. To perform meaningful genotype-phenotype analyses for rare genetic conditions, it is necessary to collect data from sizable populations. Although several standardized functional tests are used widely, ophthalmologic data usually are stored in local databases and not in multicenter databases that are linked with other centers. To be able to register ophthalmologic data of all Dutch patients with IRDs into one database, we developed the RD5000 database (RD5000db), which can harbor all ophthalmologic and selected genetic data. Authorization rights for the management, data entry, and data sharing have been set up, rendering this database into a user-friendly, secure, and widely used repository that will facilitate future studies into molecular genetics and therapies for IRDs. The RD5000db database has the potential to grow into a European standard for the registration of data from IRDs.
遗传性视网膜疾病（IRDs）是一组临床和基因异质性的脉络膜视网膜疾病。因同一基因突变而患IRD的人群比例从万分之一到百万分之一以下不等。为了对罕见遗传病进行有意义的基因型-表型分析，有必要从大量人群中收集数据。尽管几种标准化功能测试被广泛应用，但眼科数据通常存储在本地数据库中，而非与其他中心相连的多中心数据库。为了能够将所有荷兰IRD患者的眼科数据登记到一个数据库中，我们开发了RD5000数据库（RD5000db），该数据库可存储所有眼科数据和选定的基因数据。已建立了管理、数据录入和数据共享的授权机制，使该数据库成为一个用户友好、安全且广泛使用的资料库，将有助于未来对IRD的分子遗传学和治疗方法的研究。RD5000db数据库有潜力发展成为欧洲IRD数据登记的标准。
