May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Mutant Frizzled-4 (FZD4) Causes Autosomal Dominant Familial Exudative Vitreoretinopathy (FEVR) With Variable Intrafamilial Phenotype
J.M. Robitaille; M.L. MacDonald; D.L. Guernsey; B. Zheng; L.S. Siebert; A. Hoskin-Mott; M.J. Beis; M.R. Hayden; Y.P. Goldberg; M.E. Samuels
Author Affiliations & Notes
  • J.M. Robitaille
    Ophthalmology, IWK Health Centre & Dalhousie University, Halifax, NS, Canada
  • M.L. MacDonald
    Xenon Genetics, Inc., Burnaby, BC, Canada
  • D.L. Guernsey
    Pathology, Div. of Molecular Path and Molecular Genetics, Dalhousie University, Halifax, NS, Canada
  • B. Zheng
    Pathology, Div. of Molecular Path and Molecular Genetics, Dalhousie University, Halifax, NS, Canada
  • L.S. Siebert
    Ophthalmology, University of Western Ontario, London, ON, Canada
  • A. Hoskin-Mott
    Ophthalmology, QEII Health Sciences Centre & Dalhousie University, Halifax, NS, Canada
  • M.J. Beis
    Ophthalmology, IWK Health Centre, Halifax, NS, Canada
  • M.R. Hayden
    Ophthalmology, IWK Health Centre, Halifax, NS, Canada
  • Y.P. Goldberg
    Ophthalmology, IWK Health Centre, Halifax, NS, Canada
  • M.E. Samuels
    Ophthalmology, IWK Health Centre, Halifax, NS, Canada
  • Footnotes
    Commercial Relationships  J.M. Robitaille, Xenon Genetics Inc. C, P; M.L.E. MacDonald, Xenon Genetics Inc. E, P; D.L. Guernsey, None; B. Zheng, None; L.S. Siebert, None; A. Hoskin-Mott, None; M.J. Beis, None; M.R. Hayden, Xenon Genetics Inc. E, P; Y.P. Goldberg, Xenon Genetics Inc. E, P; M.E. Samuels, Xenon Genetics Inc. E, P.
  • Footnotes
    Support  IWK Health Centre, Nova Scotia Health Research Foundation, Xenon Genetics Inc.
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1477. doi:
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      J.M. Robitaille, M.L. MacDonald, D.L. Guernsey, B. Zheng, L.S. Siebert, A. Hoskin-Mott, M.J. Beis, M.R. Hayden, Y.P. Goldberg, M.E. Samuels; Mutant Frizzled-4 (FZD4) Causes Autosomal Dominant Familial Exudative Vitreoretinopathy (FEVR) With Variable Intrafamilial Phenotype . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1477.

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Abstract

Abstract: : Purpose: Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization inducing neovascularization that may result in retinal detachment and blindness. There are three identified FEVR loci, at 11q (EVR1), Xp (EVR2) and 11p (EVR3). The aim of this study was to identify a gene for autosomal dominant FEVR and describe the phenotype. Methods: We ascertained a large multigenerational Canadian family segregating FEVR. Clinical examinations were done for all participants as well as a chart review for each affected family member. Blood samples were collected to refine the disease locus and investigate candidate genes within the region. Results: We confirmed linkage to the EVR1 locus in this family and further refined the disease locus to a small genomic region spanning about 1.5 Mb. Investigating candidate genes within the region, we found a novel deletion of two amino acids in FZD4, a member of the Wnt receptors, which segregated completely with affected individuals in the family. This mutation was not observed in 153 control chromosomes. 30 members of the family were identified with FEVR and presented a variable phenotype ranging from asymptomatic to complete blindness (no light perception) in both eyes. The age of onset of legal blindness (visual acuity < 20/200) occurred as early as 2 months of age, but delayed onset was also a feature in some affected members. Conclusion: The range of clinical manifestations of FEVR in this family will be presented. The identification of FZD4 as causative of FEVR establishes the role of a Wnt receptor in retinal angiogenesis and a single mutation found in this family causes a variable phenotype.

Keywords: genetics • mutations • retinal neovascularization 
© 2003, 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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