May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Clinical and Genetic Analysis of Inherited Developmental Abnormalities of the Eye and Orbit in a Large Family
Author Affiliations & Notes
  • J. T. Pribila
    University of Michigan, Ann Arbor, Michigan
    Ophthalmology,
  • S. Tarle
    University of Michigan, Ann Arbor, Michigan
    Internal Medicine and Human Genetics,
  • C. Chou
    University of Michigan, Ann Arbor, Michigan
    Internal Medicine and Human Genetics,
  • T. Glaser
    University of Michigan, Ann Arbor, Michigan
    Internal Medicine and Human Genetics,
  • C. C. Nelson
    University of Michigan, Ann Arbor, Michigan
    Ophthalmology,
  • Footnotes
    Commercial Relationships  J.T. Pribila, None; S. Tarle, None; C. Chou, None; T. Glaser, None; C.C. Nelson, None.
  • Footnotes
    Support  Supported by grants from the MEBTC and NIH (EY12994, EY14249).
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 1718. doi:
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    • Get Citation

      J. T. Pribila, S. Tarle, C. Chou, T. Glaser, C. C. Nelson; Clinical and Genetic Analysis of Inherited Developmental Abnormalities of the Eye and Orbit in a Large Family. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1718.

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Abstract

Purpose: : Congenital malformations of the eye and orbit affect 1.0-1.9 in 10,000 births. These range from anophthalmia (complete absence of the eye in the presence of normal ocular adnexa) to small defects in the anterior or posterior segments, and are frequently associated with systemic developmental syndromes. The goal of this study is to find the cause of hereditary eye defects in a large pedigree.

Methods: : Linkage analysis was performed using informative DNA markers.

Results: : We have identified a six-generation family with structural disorders of the eye, including bilateral anophthalmia and isolated anterior and posterior colobomas; there are no other neurological or systemic findings. The pedigree includes several obligate mutation carriers who do not demonstrate any clinical evidence of disease, suggesting an autosomal dominant mode of inheritance with reduced penetrance. Using linkage analysis with SSLP markers, we excluded 24 candidate genes that have been associated with anophthalmia in mice or humans, including SOX2.

Conclusions: : The mutation in this family thus involves a previously uncharacterized eye development gene. We are mapping the disease locus using a single-nucleotide-polymorphism (SNP) genotyping strategy. Understanding the genetic and molecular basis of ocular and orbital morphogenesis are essential for developing screening tests and targeted treatments for these disorders.

Keywords: genetics • development 
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