May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Genetic Study of Familial Exudative Vitreoretinopathy
Author Affiliations & Notes
  • R. Horn
    Ophthalmology,
    University of Utah, Salt Lake City, UT
  • D. Shukla
    Retina–Vitreous Service, Aravind Eye Hospital, Madurai, India
  • A. Rajendren
    Retina–Vitreous Service, Aravind Eye Hospital, Madurai, India
  • J. Baird
    Department of Ophthalmology and Visual Science and Program in Human Molecular Biology & Genetics,
    University of Utah, Salt Lake City, UT
  • J. Young
    Department of Ophthalmology and Visual Science and Program in Human Molecular Biology & Genetics,
    University of Utah, Salt Lake City, UT
  • E. Pearson
    Department of Ophthalmology and Visual Science and Program in Human Molecular Biology & Genetics,
    University of Utah, Salt Lake City, UT
  • W. Tasman
    Ophthalmology, Wills Eye Hospital, Philadelphia,, PA
  • K. Tawansy
    van Wyck–Dalany Childrens Retina Center, Childrens Hospital Los Angeles and Doheny Reti, USC Keck School of Medicine, Los Angeles, CA
  • K. Zhang
    Department of Ophthalmology and Visual Science and Program in Human Molecular Biology & Genetics,
    University of Utah, Salt Lake City, UT
  • American FEVR Consortium
    University of Utah, Salt Lake City, UT
  • Footnotes
    Commercial Relationships  R. Horn, None; D. Shukla, None; A. Rajendren, None; J. Baird, None; J. Young, None; E. Pearson, None; W. Tasman, None; K. Tawansy, None; K. Zhang, None.
  • Footnotes
    Support  Macular Vision Research Foundation and Steinbach Fund
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 1795. doi:
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      R. Horn, D. Shukla, A. Rajendren, J. Baird, J. Young, E. Pearson, W. Tasman, K. Tawansy, K. Zhang, American FEVR Consortium; Genetic Study of Familial Exudative Vitreoretinopathy . Invest. Ophthalmol. Vis. Sci. 2005;46(13):1795.

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

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Abstract

Abstract: : Purpose: Familial exudative vitreoretinopathy (FEVR) is an autosomal dominant retinal dystrophy characterized by premature arrest of normal retinal angiogenesis and incomplete vascularization of the peripheral retina. Vitreous hemorrhage and tractional retinal detachments are two severe complications of FEVR. FEVR is genetically heterogeneous, with three loci mapped and two genes identified. Two mutations on chromosome 11q, the LRP5 and FZD4 mutations, have been shown to be associated with FEVR. We and other have shown that the Wnt signaling pathway plays an important role in retinal angiogenesis. The purpose of this study was to characterize clinical features and screening for mutations in a panel of 115 FEVR patients. Methods: Fundus photographs and fluorescein angiograms (FA) were performed to assess the retinal vasculature. Genomic DNA was PCR–amplified with primers corresponding to the coding sequence of FZD4 and LRP5. The PCR products were screened for mutations by direct sequencing. Results: Affected patients presented with a variety of fundus and FA features including macular folds, temporal macular dragging, macular edema and lipid exudation, peripheral non–perfusion, peripheral vascular mass, traction retinal detachment, vitreous hemorrhage. There is a marked intra and inter familial expression of the clinical phenotype. Mutation analysis revealed 5 mutations in FEVR, one in LRP5. Conclusions: There is a marked intra and inter familial expression of the clinical phenotype, suggesting a genetic modifier effect. Mutations in FZD4 and LRP5 may only represent a small fraction of the underlying genetic cause of FEVR. We have established a FEVR research consortium (American FEVR Research Consortium, http://fevr.genetics.utah.edu) with a world–wide referral network to facilitate clinical care and research participation of FEVR patients. Our clinical and genetic studies will aid better classification and treatment of FEVR.

Keywords: retinal degenerations: hereditary • gene mapping 
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