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Arthur Bergen

Short CV

21-01-1961 Born in Voorburg, The Netherlands
1993 PhD: Medical genetics (Leiden University)
1996-present Head of Ophthalmogenetics department NIN
2002-present Certified clinical molecular geneticist
2004-present Professorship: Complex Ophthalmogenetics (University of Amsterdam)
  • Peer reviewed scientific publications Bergen group > 90; 23 of which in high impact journals
  • Invited lectures Bergen > 50; several chairs and advisory cies

Scientifc Interest

To elucidate the molecular machinery and corresponding function of the retinal pigment epithelium and the ganglion cell layers in the retina, during development, aging and disease


  • Association for Research in Vision and Ophthalmology (ARVO)
  • Anthropogenetic Society of the Netherlands
  • Netherlands Ophthalmology Society
  • European Vision Institute EEIG (EVI)

Further Activities

  • Member medical and scientific advisory committee Retina Netherlands and Retina International
  • (co-)organiser Retina International meeting 2004 (Noordwijk, NL) and yearly Dutch/Belgian Ophalmogenetics meeting
  • Editorial board member "Molecular vision" 2007-present
  • Member international audit committee for neuroscience and vision institutes Portugal (2008)
  • Responsible for Ophthalmogenetic DNA diagnostics at the Amsterdam Medical Centre (1993-present)

Research Group

Molecular ophthalmogenetics


The Netherlands Institute for Neuroscience (NIN-KNAW)

Meibergdreef 47
1105 BA Amsterdam
The Netherlands

Phone: (+31) 20 5666101
Fax: (+31) 20 5666121



Key Publications

  1. Klaver CC and Bergen AA
    SerpinG1 gene and age-related macular degeneration.
    The Lancet 372 :1788-1789 (2008)
  2. van Soest S, de Wit GJM, Essing AHW, ten Brink JB, Kamphuis W, de jong PT, Bergen AA
    Comparison of human RPE gene expression in macula and periphery highlights potential topographic differences in Bruch’s membrane
    Mol. Vis. 13:1608-1617 (2007)
  3. Gorgels TG, van der Pluijm I, Brandt RM, Garinis GA, van Steeg H, van den Aardweg G, Jansen GH, Ruijter JM, Bergen AA, van Norren D, Hoeijmakers JH, van der Horst GT.
    Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome.
    Mol Cell Biol Feb;27(4):1433-41. (2007)
  4. Despriet DD, Klaver CC, Witteman JC, Bergen AA, Kardys I, de Maat MP, Boekhoorn SS, Vingerling JR, Hofman A, Oostra BA, Uitterlinden AG, Stijnen T, van Duijn CM, de Jong PT
    Complement factor H polymorphism, complement activators, and risk of age-related macular degeneration.
    JAMA. Jul 19;296(3):301-9. (2006)
  5. TGMF Gorgels, X Hu, GL Scheffer, AC van der Wal., J Toonstra, PTVM. de Jong, TH van Kuppevelt, CN Levelt, A de Wolf, WJP Loves, RJ Scheper, R Peek and AAB Bergen
    Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum.
    Hum Mol Genet. 2005 Jul 1;14(13):1763-73. (2005)
  6. Bergen AAB, AS Plomp, EJ Schuurman, S. Terry, Breuning MH, Dauwerse H, Swart J, Kool M, van Soest S, Baas F, ten Brink JB, de Jong PTVM
    Mutations in ABCC6 cause pseudoxanthoma elasticum.
    Nature Genetics 25: 228-232. (2000)
  7. van Soest S, Westerveld A, de Jong PT, Bleeker Wagemakers EM, Bergen AAB
    Retinitis pigmentosa: defined from a molecular point of view.
    Surv Ophthalmol Jan Feb;43(4):321 34 (1999)
  8. Hollander AI den, ten Brink JB, de Kok Y, van Soest S, van den Born LI, van Driel M, van der Pol DJR, Kellner U, Hoying C, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FPM, Bergen AAB
    Mutations in a homologue of Drosophila crumbs cause retinitis pigmentosa with preserved para-arteriolar retinal pigment epithelium (RP12).
    Nature Genetics. Oct;23(2):217-21. (1999)
  9. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AAB, McGarty Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C
    Identification of the gene responsible for Best macular dystrophy.
    Nature Genetics Jul;19(3):241-7 (1998)
  10. Bassi MT, Schiaffino MV, Reieri A, de Nigris F, Galli, L, Bruttini M, Gebbia M, Bergen AAB, Lewis RA, Ballabio A
    Cloning of the gene for ocular albinism from the distal short arm of the human X chromosome.
    Nature Genetics 10: 13-19. (1995)

Research Groups