B
B. Jeroen Klevering
Researcher at Radboud University Nijmegen
Publications - 100
Citations - 5532
B. Jeroen Klevering is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Retinitis pigmentosa & Macular degeneration. The author has an hindex of 37, co-authored 93 publications receiving 4654 citations. Previous affiliations of B. Jeroen Klevering include Radboud University Nijmegen Medical Centre.
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Journal ArticleDOI
Non-syndromic retinitis pigmentosa
Sanne K Verbakel,Ramon A. C. van Huet,Camiel J. F. Boon,Anneke I. den Hollander,Rob W.J. Collin,Caroline C W Klaver,Carel B. Hoyng,Ronald Roepman,B. Jeroen Klevering +8 more
TL;DR: A comprehensive overview of the clinical characteristics of RP specific to genetically defined patient subsets is provided, including a unique atlas with color fundus photographs of most RP subtypes, and the relevant considerations with respect to differential diagnoses are discussed.
Journal ArticleDOI
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.
Alessandra Maugeri,B. Jeroen Klevering,Klaus Rohrschneider,A. Blankenagel,Han G. Brunner,August F. Deutman,Carel B. Hoyng,Frans P.M. Cremers +7 more
TL;DR: A primary role of the ABCA4 gene in STGD1/FFM and AR CRD, together with the gene's involvement in an as-yet-unknown proportion of cases with AR RP, strengthens the idea that mutations in the ABC a4 gene could be the most frequent cause of inherited retinal dystrophy in humans.
Journal ArticleDOI
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
Camiel J. F. Boon,B. Jeroen Klevering,Bart P. Leroy,Carel B. Hoyng,Jan E.E. Keunen,Anneke I. den Hollander +5 more
TL;DR: The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystrophy and adult-onset foveomacular viteLLiform Dystrophy, autosomal dominant vitreoretinochoroidopathy, the MRCS (microcornea, rod-cone dystrohy, cataract, posterior staphyloma) syndrome, and autosomal recessive bestrophinopathy.
Journal ArticleDOI
Next-generation genetic testing for retinitis pigmentosa.
Kornelia Neveling,Rob W.J. Collin,Christian Gilissen,Ramon A.C. van Huet,Linda Visser,Michael Kwint,Sabine Gijsen,Marijke N. Zonneveld,Nienke Wieskamp,Joep de Ligt,Anna M. Siemiatkowska,Lies H. Hoefsloot,Michael F. Buckley,Ulrich Kellner,Kari Branham,Anneke I. den Hollander,Alexander Hoischen,Carel B. Hoyng,B. Jeroen Klevering,L. Ingeborgh van den Born,Joris A. Veltman,Frans P.M. Cremers,Hans Scheffer +22 more
TL;DR: This study demonstrates the enormous potential and clinical utility of NGS in molecular diagnosis of genetically heterogeneous diseases such as RP, and de novo dominant mutations appear to play a significant role in patients with isolated RP, having major implications for genetic counselling.
Journal ArticleDOI
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
Camiel J. F. Boon,Anneke I. den Hollander,Carel B. Hoyng,Frans P.M. Cremers,B. Jeroen Klevering,Jan E.E. Keunen +5 more
TL;DR: An overview is presented of the broad spectrum of clinical phenotypes caused by human peripherin/RDS gene mutations, ranging from various macular dystrophies to widespread forms of retinal dystrophy such as retinitis pigmentosa.