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

Investigative Ophthalmology and Visual Science

Volumn 55, Issue 11, 2014, Pages 7355-7360

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

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c Institute for the Visually Impaired   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e ROTTERDAM EYE HOSPITAL   (Netherlands)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Genetic diseases; Registry; Retinal disease

Indexed keywords

ACCESS TO INFORMATION; ADMINISTRATIVE PERSONNEL; ARTICLE; CLINICAL DATA REPOSITORY; CLINICAL EXAMINATION; COMPUTER PROGRAM; COMPUTERIZED PROVIDER ORDER ENTRY; CONCEPTUAL FRAMEWORK; DATA BASE; DATA PROCESSING; GENE MUTATION; GENETIC DISORDER; GENOTYPE; MANAGEMENT; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; PRIVACY; RETINA DISEASE; SEARCH ENGINE; FACTUAL DATABASE; GENETIC PREDISPOSITION; GENETICS; HUMAN; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; RETINA; RETINAL DISEASES;

DNA;

DATABASES, FACTUAL; DNA; DNA MUTATIONAL ANALYSIS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION; RETINA; RETINAL DISEASES;

EID: 84922326990     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-15317     Document Type: Article

References (13)

1. Berson EL. Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci. 1993;34:1659–1676.
2. Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368:1795–1809.
3. Michaelides M, Hardcastle AJ, Hunt DM, Moore AT. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. Surv Ophthalmol. 2006;51:232–258.
4. den Hollander AI, Black A, Bennett J, Cremers FP. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest. 2010;120:3042–3053.
5. Bunker CH, Berson EL, Bromley WC, Hayes RP, Roderick TH. Prevalence of retinitis pigmentosa in Maine. Am J Ophthal-mol. 1984;97:357–365.
6. Hamel C. Retinitis pigmentosa. Orphanet J Rare Dis. 2006;1: 40.
7. Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007;2: 7.
8. Mockel A, Perdomo Y, Stutzmann F, Letsch J, Marion V, Dollfus H. Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies. Prog Retin Eye Res. 2011;30:258–274.
9. Kalatzis V, Hamel CP, Macdonald IM. First International Choroideremia Research S. Choroideremia: towards a therapy. Am J Ophthalmol. 2013;156:433–437.
10. Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010;29:335–375.
11. Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Causes and consequences of inherited cone disorders. Prog Retin Eye Res. 2014;42:1–26.
12. Tröger E, Wilke R, Prokofyeva E, Zrenner E. Ophthabase: a generic extensible patient registry system. Acta Ophthalmol. 2008;86:0.
13. Talmon JL, Ros MG, Legemate DAPSI: The Dutch Academic Infrastructure for shared biobanks for translational research. Summit on Translat Bioinforma. 2008;2008:110–114.