May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Genetic Heterogeneity in Familial Exudative Vitreoretinopathy With Reduced Bone Mineral Density
Author Affiliations & Notes
  • H. Kondo
    Department of Ophthalmology, Fukuoka Univ Sch of Medicine, Fukuoka, Japan
  • G. Nakamori
    Department of Ophthalmology, Fukuoka Univ Sch of Medicine, Fukuoka, Japan
  • E. Uchio
    Department of Ophthalmology, Fukuoka Univ Sch of Medicine, Fukuoka, Japan
  • T. Tahira
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
  • K. Hayashi
    Division of Genome Analysis, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan
  • Footnotes
    Commercial Relationships  H. Kondo, None; G. Nakamori, None; E. Uchio, None; T. Tahira, None; K. Hayashi, None.
  • Footnotes
    Support  Grant-in-Aid for Scientific Research (C) 19592047
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 3110. doi:https://doi.org/
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    • Get Citation

      H. Kondo, G. Nakamori, E. Uchio, T. Tahira, K. Hayashi; Genetic Heterogeneity in Familial Exudative Vitreoretinopathy With Reduced Bone Mineral Density. Invest. Ophthalmol. Vis. Sci. 2008;49(13):3110. doi: https://doi.org/.

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

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Abstract

Purpose: : To investigate reduced bone mineral density (BMD) in patients with familial exudative vitreoretinopathy (FEVR) and underlying mutations in FEVR-causing genes.

Methods: : In a panel of FEVR families for which coding exons of known causing genes (FZD4, LRP5 and NDP) have been sequenced, forty-three patients were evaluated for BMD using dual energy x-ray absorptiometry. BMD was converted to an SD score (z-score) appropriated for gender-, age- and racially matched control subjects (Japanese).

Results: : Of the 43 patients, 26 (60%) had BMD of z < -1.0 and 9 (21%) had that of z < -1.5. Of the 9 patients, four patients presented with autosomal dominant mode of inheritance, of which two had FZD4 mutations (z=-4.0 and -1.9), one had LRP5 mutation (z=-2.5), and one carried mutations in both FZD4 and LRP5 (z=-2.1). One patient was an autosomal recessive FEVR with compound heterozygous mutations in LRP5 (z=-3.3). Two patients were X-linked FEVR who carried NDP mutation hemizygously (z=-2.1 and -1.7). One was a sporadic FEVR with no mutations (z=-2.6).

Conclusions: : Some FEVR patients carrying mutations in FZD4 or NDP tended to have reduced BMD as indicated for mutations in LRP5. This study suggests skeletal pathology is a sign of a fraction of FEVR. The underlying genetic defects may be more heterogeneous than previously thought.

Keywords: retinal degenerations: hereditary • mutations • degenerations/dystrophies 
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