TY - JOUR
T1 - The RD5000 Database: 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.
AU - AUTHOR GROUP
AU - Bax, Nathalie M.
AU - Hoyng, Carel B.
AU - van Zelst-Stams, Wendy A.
AU - Bergen, Arthur A. B.
AU - Schuil, José
AU - van Schooneveld, Mary J.
AU - Pierrache, Laurence
AU - Meester-Smoor, Magda A.
AU - Boon, Camiel J. F.
AU - Pott, Jan Willem R.
AU - van Leeuwen, Redmer
AU - Kroes, Hester Y.
AU - Boonstra, F. Nienke
PY - 2014
Y1 - 2014
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
U2 - https://doi.org/10.1167/iovs.14-15317
DO - https://doi.org/10.1167/iovs.14-15317
M3 - 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 -