April 2009
Volume 50, Issue 13
ARVO Annual Meeting Abstract  |   April 2009
The Role of Crumbs Genes in the Vertebrate Cornea
Author Affiliations & Notes
  • J. Beyer
    Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts
  • X. C. Zhao
    Ophthalmology and Visual Science, University of Texas Medical School, Houston, Texas
  • R. Yee
    Ophthalmology and Visual Science, University of Texas Medical School, Houston, Texas
  • S. Khaliq
    Centre for Human Genetics and Molecular Medicine, Sindh Institute, Karachi, Pakistan
  • T. McMahon
    Ophthalmology and Visual Science, University of Illinois at Chicago, Chicago, Illinois
  • J. J. Malicki
    Ophthalmology, Harvard Medical School/MEEI, Boston, Massachusetts
  • Footnotes
    Commercial Relationships  J. Beyer, None; X.C. Zhao, None; R. Yee, None; S. Khaliq, None; T. McMahon, None; J.J. Malicki, None.
  • Footnotes
    Support  NEI, RO1 EY011882; NEI, R21 EY018728
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 5508. doi:
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      J. Beyer, X. C. Zhao, R. Yee, S. Khaliq, T. McMahon, J. J. Malicki; The Role of Crumbs Genes in the Vertebrate Cornea. Invest. Ophthalmol. Vis. Sci. 2009;50(13):5508.

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

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Purpose: : To evaluate the role of crumbs genes and related epithelial polarity loci in the vertebrate cornea.

Methods: : We used histological analysis and electron microscopy to evaluate the cornea in zebrafish that carry a mutation in a crumbs locus oko meduzy, as well as in mutants of four other loci that function in the same or related genetic pathways. In parallel, we performed an evaluation of corneas in human carriers of crumbs mutations using topography, biomicroscopy, and specular microscopy.

Results: : The corneas of zebrafish mutants display severe abnormalities of the epithelium and the stroma. Corneal epithelial cells do not properly adhere to one another, and fluid-filled spaces form in between them. In addition, the layering of corneal stroma is poorly formed or absent in mutant corneas. The corneas of human carriers of crumbs mutations display shape deviations, compared to normal individuals.

Conclusions: : The crumbs gene plays a role in the differentiation of the vertebrate cornea. Defects associated with crumbs gene mutations are very severe in the zebrafish model, and relatively mild in the human eye.

Keywords: cornea: epithelium • cornea: stroma and keratocytes • pathology: human 

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