May 2005
Volume 46, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2005
Ocular Pathology in a Mouse Model of Marfan Syndrome
Author Affiliations & Notes
  • N. Goldenberg–Cohen
    Ophthalmology, Schneider Children's Medical Center, Shoham, Israel
  • I.H. Maumenee
    Johns Hopkins Center for Hereditary Eye Diseases, The Wilmer Eye Institute, Baltimore, MD
  • D.P. Judge
    Department of Cardiology, The Johns Hopkins University School of Medicine, Baltimore, MD
  • R. Green
    Ocular Pathology, The Wilmer Eye Institute, the Johns Hopkins University School of Medicine, Baltimore, MD
  • H.C. Dietz
    Department of Pediatrics, Medicine and Molecular Biology and Genetics, Howard Hughes Medical Institute and the Johns Hopkins University School of Medicine, Baltimore, MD
  • Footnotes
    Commercial Relationships  N. Goldenberg–Cohen, None; I.H. Maumenee, None; D.P. Judge, None; R. Green, None; H.C. Dietz, None.
  • Footnotes
    Support  Isabel and Zanvyl Krieger Fund; Sima Wiseman Fund/Tel Aviv University
Investigative Ophthalmology & Visual Science May 2005, Vol.46, 3169. doi:
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      N. Goldenberg–Cohen, I.H. Maumenee, D.P. Judge, R. Green, H.C. Dietz; Ocular Pathology in a Mouse Model of Marfan Syndrome . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3169.

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Abstract

Abstract: : Purpose: Fibrillin is a microfibrillar glycoprotein component of the extracellular matrix that has been found to be the defective gene product in the Marfan syndrome (MFS). Insights into pathogenetic mechanisms of MFS have been gained through use of mouse models harboring a mutation in the gene that encodes for fibrillin–1. The aim of the present study was to adapt this model to examine the distribution of fibrillin in the ocular tissue of fibrillin–1– mutant mice and control wild type C56Bl6 mice. Methods: Paraffin embedded sections from 10 pairs of eyes from normal and 10 pairs of eyes from fibrillin–1–mutant mice were stained with mouse anti–human fibrillin antibodies using the avidin–biotin immunoperoxidase technique. Results: Positive staining for fibrillin was noted in the control mice. Staining was relatively weaker in the eyes from the mice heterozygous for the MFS mutation and no staining could be detected in homozygous mice. In the normal eyes, fibrillin–1 was located in the following regions: lens capsule and zonules; connective tissues of the iris, ciliary body, ciliary processes, and conjunctiva; basement membrane regions of the corneal epithelium and endothelium of Schlemm's canal. Posteriorly, fibrillin was localized to the sclera, choroid, and Bruch's membrane. Conclusions: Fibrillin is widely distributed in ocular connective tissues. Its absence from these regions may cause structural defects, which play a role in lens dislocation, retinal detachment and glaucoma associated with MFS. The knowledge gained from animal models on the pathophysiology of MFS and ocular complications has important diagnostic, prognostic and therapeutic implications.

Keywords: genetics • proteins encoded by disease genes • protein structure/function 
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