April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Novel Frameshift, Nonsense and Splice Site Mutations in the Complement Factor H Gene in Patients With Age-Related Maculopathy
Author Affiliations & Notes
  • J. P. van de Ven
    Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  • A. I. Den Hollander
    Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  • C. J. F. Boon
    Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  • D. Smailhodzic
    Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  • B. J. Klevering
    Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  • C. C. W. Klaver
    Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands
  • S. Fauser
    Ophthalmology, University of Cologne Medical Center, Cologne, Germany
  • C. B. Hoyng
    Ophthalmology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  • Footnotes
    Commercial Relationships  J.P. van de Ven, None; A.I. Den Hollander, None; C.J.F. Boon, None; D. Smailhodzic, None; B.J. Klevering, None; C.C.W. Klaver, None; S. Fauser, None; C.B. Hoyng, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 1268. doi:
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      J. P. van de Ven, A. I. Den Hollander, C. J. F. Boon, D. Smailhodzic, B. J. Klevering, C. C. W. Klaver, S. Fauser, C. B. Hoyng; Novel Frameshift, Nonsense and Splice Site Mutations in the Complement Factor H Gene in Patients With Age-Related Maculopathy. Invest. Ophthalmol. Vis. Sci. 2010;51(13):1268.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : The present study was conducted to identify novel complement factor H (CFH) mutations in patients with age-related maculopathy and to describe the associated retinal phenotypes.

Methods: : All subjects were derived from EUGENDA, a multicenter database for clinical and molecular analysis of age-related macular degeneration (AMD). In brief, ophthalmic examinations, non-stereoscopic 30° color fundus photography, and fluorescein angiography were performed. In addition, patients were interviewed with a questionnaire. Venous blood samples were drawn for genomic DNA extraction from peripheral blood leukocytes. The CFH gene was analyzed by direct sequencing.

Results: : In four patients we identified novel heterozygous mutations in the CFH gene: p.Ile184fsX, p.Lys204fsX, p. Trp436X, and c.1697-17_-8del. In addition, the patients carried the AMD risk allele p.Tyr402His in heterozygous or homozygous state. The patients had drusen and and/or pigment epithelial detachment (PED) in the macular area. One patient had the basal laminar drusen (BLD) phenotype and reported an end stage membranoproliferative glomerulonephritis type II (MPGN II) in his medical history.

Conclusions: : Our findings confirm that AMD and the BLD phenotype belong to a spectrum of diseases associated with either monogenic or multifactorial inheritance of variants and mutations of the CFH gene. These insights may provide us with tools for risk estimation in the near future by genetic screening.

Keywords: age-related macular degeneration • mutations 
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