title: The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Ramon A C
authors.initials: RA
authors.lastname: van Huet
authors.affiliation: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Clasien J
authors.initials: CJ
authors.lastname: Oomen
authors.affiliation: Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Astrid S
authors.initials: AS
authors.lastname: Plomp
authors.affiliation: Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.
authors.forename: Maria M
authors.initials: MM
authors.lastname: van Genderen
authors.affiliation: Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: B Jeroen
authors.initials: BJ
authors.lastname: Klevering
authors.affiliation: Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Reinier O
authors.initials: RO
authors.lastname: Schlingemann
authors.affiliation: Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Caroline C W
authors.initials: CC
authors.lastname: Klaver
authors.affiliation: The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
authors.forename: L Ingeborgh
authors.initials: LI
authors.lastname: van den Born
authors.affiliation: Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
authors.forename: Frans P M
authors.initials: FP
authors.lastname: Cremers
mesh_terms: D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D016208:Databases, Factual; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D004247:DNA
keywords: genetic diseases; registry; retinal disease