The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases

Ramon A C van Huet, Clasien J Oomen, Astrid S Plomp, Maria M van Genderen, B Jeroen Klevering, Reinier O Schlingemann, Caroline C W Klaver, L Ingeborgh van den Born, Frans P M Cremers,

Research output: Contribution to journalReview articleResearchpeer-review

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.

Original languageEnglish
Pages (from-to)7355-60
Number of pages6
JournalInvestigative ophthalmology & visual science
Volume55
Issue number11
DOIs
Publication statusPublished - 17 Nov 2014

Keywords

  • DNA/genetics
  • DNA Mutational Analysis
  • Databases, Factual
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Retina/pathology
  • Retinal Diseases/diagnosis

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