Survey of Ophthalmology
Volume 49, Issue 2 , Pages 159-196, March 2004

Ocular genetics: current understanding☆

  • Ian M MacDonald, MSc, MD CM

      Affiliations

    • Department of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
    • Corresponding Author InformationReprint address: Ian M. MacDonald, MD CM, Ocular Genetics Laboratory, University of Alberta, 832 Medical Sciences Bldg., Edmonton, AB Canada T6G 2H7.
    • ,
  • Mai Tran, BSc

      Affiliations

    • Department of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
    • ,
  • Maria A Musarella, MD

      Affiliations

    • Long Island College Hospital, Department of Ophthalmology, Brooklyn, New York, USA
    • SUNY Downstate Medical Center of Brooklyn, Department of Ophthalmology, Brooklyn, New York, USA

Abstract 

Over the past decade, there has been an exponential increase in our knowledge of heritable eye conditions. Coincidentally, our ability to provide accurate genetic diagnoses has allowed appropriate counseling to patients and families. A summary of our current understanding of ocular genetics will prove useful to clinicians, researchers, and students as an introduction to the subject.

Keywords:  genetic counseling, molecular genetics, ocular genetics

 

☆ The authors reported no proprietary or commercial interest in any product mentioned or concept discussed in this manuscript. The authors are very grateful for many helpful comments from Elise Héon, Muriel Kayser-Kupfer, Paul Sieving, and Michael Walter who read all or part of the manuscript.

PII: S0039-6257(03)00177-2

doi:10.1016/j.survophthal.2003.12.003

Survey of Ophthalmology
Volume 49, Issue 2 , Pages 159-196, March 2004

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