May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Does VMD2 Genotype Predict Visual Outcome in Patients With Best Vitelliform Dystrophy?
C.C. W. Klaver; J.C. Booij; J.B. ten Brink; P.T. V. M. de Jong; M.J. van Schooneveld; A.B. B. Bergen
Author Affiliations & Notes
  • C.C. W. Klaver
    Ophthalmology, Erasmus MC, Rotterdam, The Netherlands
  • J.C. Booij
    Ophthalmogenetics, Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
  • J.B. ten Brink
    Ophthalmogenetics, Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
  • P.T. V. M. de Jong
    Ophthalmogenetics, Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
  • M.J. van Schooneveld
    Ophthalmology, UMC, Utrecht, The Netherlands
  • A.B. B. Bergen
    Ophthalmogenetics, Netherlands Ophthalmic Research Institute, Amsterdam, The Netherlands
  • Footnotes
    Commercial Relationships  C.C.W. Klaver, None; J.C. Booij, None; J.B. ten Brink, None; P.T.V.M. de Jong, None; M.J. van Schooneveld, None; A.B.B. Bergen, None.
  • Footnotes
    Support  None.
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 1636. doi:
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      C.C. W. Klaver, J.C. Booij, J.B. ten Brink, P.T. V. M. de Jong, M.J. van Schooneveld, A.B. B. Bergen; Does VMD2 Genotype Predict Visual Outcome in Patients With Best Vitelliform Dystrophy? . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1636.

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Abstract

Abstract: : Purpose: To determine whether the VMD2 genotype is associated with visual function and visual prognosis in patients with Best vitelliform dystrophy. Methods: Clinical records from 67 patients derived from 16 Dutch families were evaluated. We assessed visual acuity and phenotypic appearance at various ages. DNA from venous punctures was isolated according to standard protocols, and mutations in the VMD2 gene were detected by DHPLC and direct sequencing. Results: Five different mutations were found in the examined families. The families with the same mutation showed large differences in visual acuity and visual decline. We observed a great variability in members of the same family as well. Conclusions: VMD2 mutations do not predict visual outcome in our study. Other factors appear to play a role.

Keywords: degenerations/dystrophies • macula/fovea • genetics 
© 2005, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
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