TY - JOUR
T1 - The RD5000 database
T2 - facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases
AU - van Huet, Ramon A C
AU - Oomen, Clasien J
AU - Plomp, Astrid S
AU - van Genderen, Maria M
AU - Klevering, B Jeroen
AU - Schlingemann, Reinier O
AU - Klaver, Caroline C W
AU - van den Born, L Ingeborgh
AU - Cremers, Frans P M
N1 - Copyright 2014 The Association for Research in Vision and Ophthalmology, Inc.
PY - 2014/11/17
Y1 - 2014/11/17
N2 - 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.
AB - 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.
KW - DNA/genetics
KW - DNA Mutational Analysis
KW - Databases, Factual
KW - Genetic Predisposition to Disease
KW - Humans
KW - Mutation
KW - Retina/pathology
KW - Retinal Diseases/diagnosis
U2 - 10.1167/iovs.14-15317
DO - 10.1167/iovs.14-15317
M3 - Review article
C2 - 25404643
SN - 0146-0404
VL - 55
SP - 7355
EP - 7360
JO - Investigative ophthalmology & visual science
JF - Investigative ophthalmology & visual science
IS - 11
ER -