April 2010
Volume 51, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2010
Retroillumination Photographic Documentation of Age-Severity of Fuchs Corneal Dystrophy in Families Linked to FCD2
E. J. McGlumphy; W. S. Yeo; S. A. Riazuddin; A. Al-Saif; A. O. Eghrari; D. N. Meadows; D. G. Emmert; N. Katsanis; J. D. Gottsch
Author Affiliations & Notes
  • E. J. McGlumphy
    Center for Corneal Genetics, The Wilmer Eye Institute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • W. S. Yeo
    Center for Corneal Genetics, The Wilmer Eye Institute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • S. A. Riazuddin
    Center for Corneal Genetics, The Wilmer Eye Institute,
    McKusick-Nathans Institute of Genetic Medicine,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • A. Al-Saif
    McKusick-Nathans Institute of Genetic Medicine,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • A. O. Eghrari
    Center for Corneal Genetics, The Wilmer Eye Institute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • D. N. Meadows
    Center for Corneal Genetics, The Wilmer Eye Institute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • D. G. Emmert
    Center for Corneal Genetics, The Wilmer Eye Institute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • N. Katsanis
    McKusick-Nathans Institute of Genetic Medicine,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
    Center for Human Disease Modeling, Department of Cell Biology, Duke University, Durham, North Carolina
  • J. D. Gottsch
    Center for Corneal Genetics, The Wilmer Eye Institute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • Footnotes
    Commercial Relationships  E.J. McGlumphy, None; W.S. Yeo, None; S.A. Riazuddin, None; A. Al-Saif, None; A.O. Eghrari, None; D.N. Meadows, None; D.G. Emmert, None; N. Katsanis, None; J.D. Gottsch, None.
  • Footnotes
    Support  This study was supported in part by National Eye Institute Grant R01EY016835.
Investigative Ophthalmology & Visual Science April 2010, Vol.51, 4641. doi:
  • Views
  • Share
  • Tools
    • Alerts
      User Alerts
      You are adding an alert for:
      Retroillumination Photographic Documentation of Age-Severity of Fuchs Corneal Dystrophy in Families Linked to FCD2
      You will receive an email whenever this article is corrected, updated, or cited in the literature. You can manage this and all other alerts in My Account
      The alert will be sent to:
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation
      Citation

      E. J. McGlumphy, W. S. Yeo, S. A. Riazuddin, A. Al-Saif, A. O. Eghrari, D. N. Meadows, D. G. Emmert, N. Katsanis, J. D. Gottsch; Retroillumination Photographic Documentation of Age-Severity of Fuchs Corneal Dystrophy in Families Linked to FCD2. Invest. Ophthalmol. Vis. Sci. 2010;51(13):4641.

      Download citation file:

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

      ×
    • Get Permissions
  • Supplements
Abstract

Purpose: : Fuchs Corneal Dystrophy (FCD) is a progressive disease of the corneal endothelium and is pathologically defined by the presence of guttae, excrescences in Decemet membrane. We previously mapped three families to FCD2 on chromosome 18q. The following study was initiated to investigate the progression of the disease phenotype using retroillumination photography

Methods: : We recruited two large families with multiple affected individuals. Exclusion analyses of the known late-onset FCD loci were completed with closely spaced STR markers. Haplotypes were constructed and two-and multi-point LOD scores were calculated. To document age-severity relationships, retroillumination photographs were acquired from members of both families with a total of 14 FCD positive participants (28 eyes). The corneal images were divided into four quadrants and guttae in each quadrant were manually counted by two independent observers.

Results: : Haplotype analyses were suggestive of linkage to chromosome 18, which was confirmed with significant LOD scores. A total of (70,249) guttae were counted between FCD2-linked families. A statistically significant increase in guttae density in the inferotemporal region was observed (p<0.016), a pattern similarly observed in a family linked to FCD1. FCD2-linked families display an exponential trend in progression, as was observed in a previous family linked to FCD1.

Conclusions: : We have acquired baseline measurements for two families linked to FCD2 to investigate the progression of the disease phenotype. FCD2-linked families have higher guttae density in the inferotemporal region, similar to that observed in a previously published FCD1-linked family. However, the FCD2-linked families have an exponential age-severity relationship which progresses less severely than the one previously reported in a FCD1-linked family.

Keywords: cornea: endothelium • genetics 
© 2010, The Association for Research in Vision and Ophthalmology, Inc., all rights reserved. Permission to republish any abstract or part of an abstract in any form must be obtained in writing from the ARVO Office prior to publication.
Copyright © 2025 Association for Research in Vision and Ophthalmology.
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×
This site uses cookies. By continuing to use our website, you are agreeing to our privacy policy.Accept