May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
Mutation screening in FZD4 and LRP5 in familial exudative vitreoretinopathy patients.
H.M. Bottomley; L.M. Downey; D.A. Mackey; J.E. Craig; C.Y. Gregory–Evans; G. Woodruff; G.C. M. Black; K. Zhang; C.F. Inglehearn; C. Toomes
Author Affiliations & Notes
  • H.M. Bottomley
    Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom
  • L.M. Downey
    Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom
  • D.A. Mackey
    Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
  • J.E. Craig
    Department of Ophthalmology, Flinders Medical Centre, Adelaide, Australia
  • C.Y. Gregory–Evans
    Faculty of Medicine, Imperial College, London, United Kingdom
  • G. Woodruff
    Department of Ophthalmology, Leicester Royal Infirmary, Leicester, United Kingdom
  • G.C. M. Black
    Academic Unit of Ophthalmology, University of Manchester, Manchester, United Kingdom
  • K. Zhang
    Department of Ophthalmology & Visual Science, and Program in Human Molecular Biology and Genetics, University of Utah, Salt Lake City, UT
  • C.F. Inglehearn
    Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom
  • C. Toomes
    Molecular Medicine Unit, University of Leeds, Leeds, United Kingdom
  • Footnotes
    Commercial Relationships  H.M. Bottomley, None; L.M. Downey, None; D.A. Mackey, None; J.E. Craig, None; C.Y. Gregory–Evans, None; G. Woodruff, None; G.C.M. Black, None; K. Zhang, None; C.F. Inglehearn, None; C. Toomes, None.
  • Footnotes
    Support  Wellcome Trust Grant 069718/Z/02
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 2465. doi:
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      H.M. Bottomley, L.M. Downey, D.A. Mackey, J.E. Craig, C.Y. Gregory–Evans, G. Woodruff, G.C. M. Black, K. Zhang, C.F. Inglehearn, C. Toomes; Mutation screening in FZD4 and LRP5 in familial exudative vitreoretinopathy patients. . Invest. Ophthalmol. Vis. Sci. 2004;45(13):2465.

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Abstract

Abstract: : Purpose: Both FZD4 and LRP5 were recently identified as the mutated genes responsible for autosomal dominant familial exudative vitreoretinopathy (FEVR). The purpose of this study was to screen these genes in a panel of FEVR patients to identify mutations and ascertain what proportion of FEVR is attributable to mutations in each gene. Methods: PCR products were generated from genomic DNA with primers designed to amplify the coding sequence of the genes and flanking intronic sequences. The PCR products were screened for mutations by single strand conformational polymorphism–heteroduplex analysis (SSCP–HA) and by direct sequencing. Results: To date, in a panel of 40 patients we have identified a total of 14 mutations. Eight mutations were in FZD4 and six mutations in LRP5. Conclusions: We have screened a panel of FEVR patients for mutations in the FZD4 and LRP5 genes. Our initial results suggest that mutations in these two genes account for less than 40% of FEVR in our patient cohort. This finding suggests that other autosomal dominant FEVR loci may make a larger contribution to this condition than previously thought.

Keywords: retina • gene screening • mutations 
© 2004, 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 © 2024 Association for Research in Vision and Ophthalmology.
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