American Journal of Ophthalmology
Volume 142, Issue 5 , Pages 839-848.e3, November 2006

A Novel His158Arg Mutation in TIMP3 Causes a Late-Onset Form of Sorsby Fundus Dystrophy

  • Ruth J. Lin, MD

      Affiliations

    • Department ofGenetics (R.J.L., J.B., D.V.), Stanford University School of Medicine, Stanford, California USA
  • ,
  • Mark S. Blumenkranz, MD

      Affiliations

    • Ophthalmology (M.S.B., K.W., D.V.), Stanford University School of Medicine, Stanford, California
  • ,
  • Jonathan Binkley, PhD

      Affiliations

    • Department ofGenetics (R.J.L., J.B., D.V.), Stanford University School of Medicine, Stanford, California USA
    • Pathology (J.B.), Stanford University School of Medicine, Stanford, California
  • ,
  • Kathy Wu, MB, BS

      Affiliations

    • Ophthalmology (M.S.B., K.W., D.V.), Stanford University School of Medicine, Stanford, California
  • ,
  • Douglas Vollrath, MD, PhD

      Affiliations

    • Department ofGenetics (R.J.L., J.B., D.V.), Stanford University School of Medicine, Stanford, California USA
    • Ophthalmology (M.S.B., K.W., D.V.), Stanford University School of Medicine, Stanford, California
    • Corresponding Author InformationInquiries to Douglas Vollrath, MD, PhD, Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305-5120;

Accepted 1 June 2006. published online 14 July 2006.

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 Supplemental Material available at AJO.com.

 Supported by National Institutes of Health (NIGMS), Alcon Research Institute, and Kott Family Foundation.

PII: S0002-9394(06)00697-0

doi:10.1016/j.ajo.2006.06.003

American Journal of Ophthalmology
Volume 142, Issue 5 , Pages 839-848.e3, November 2006