April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
Progression of Fuchs Corneal Dystrophy in a Family With a Genotype Linked to the Locus at 13ptel-13q12.13
Author Affiliations & Notes
  • D. N. Meadows
    Center for Corneal Genetics, Wilmer Ophthalmological Insitute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • A. O. Eghrari
    Center for Corneal Genetics, Wilmer Ophthalmological Insitute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • D. G. Emmert
    Center for Corneal Genetics, Wilmer Ophthalmological Insitute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • N. Katsanis
    McKusick-Nathans Institute of Genetic Medicine,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • S. A. Riazuddin
    McKusick-Nathans Institute of Genetic Medicine,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • J. D. Gottsch
    Center for Corneal Genetics, Wilmer Ophthalmological Insitute,
    Johns Hopkins University School of Medicine, Baltimore, Maryland
  • Footnotes
    Commercial Relationships  D.N. Meadows, None; A.O. Eghrari, None; D.G. Emmert, None; N. Katsanis, None; S.A. Riazuddin, None; J.D. Gottsch, None.
  • Footnotes
    Support  R01 EY016835
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 3886. doi:
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      D. N. Meadows, A. O. Eghrari, D. G. Emmert, N. Katsanis, S. A. Riazuddin, J. D. Gottsch; Progression of Fuchs Corneal Dystrophy in a Family With a Genotype Linked to the Locus at 13ptel-13q12.13. Invest. Ophthalmol. Vis. Sci. 2009;50(13):3886.

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

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Abstract

Purpose: : Fuchs Corneal Dystrophy (FCD) is a progressive corneal disease marked by the development of excrescences of Descemet’s membrane, known as guttae. We have previously described the use of retroillumination photography to document disease progression and to qualitatively determine phenotypic differences between early- and late-onset FCD. We sought to use retroillumination photography to determine if progression of disease in a cohort of individuals with late-onset FCD linked to Chromosome 13 could be documented.

Methods: : Retroillumination photography was performed for six related individuals (twelve eyes) at a 30-month interval. Individual guttae were identified in each image and distribution recorded. A grid of concentric circles divided into 30-degree angles was utilized to delineate regional differences in development of guttae.

Results: : On average, a 46% increase in guttae was demonstrated over the course of 30 months (mean increase of 1759 to 2560 guttae/eye). Density was consistently highest in the center during this interval (22 to 30 guttae/mm2) and least in the periphery (0 to 1 gutta/mm2); its increase was strongly correlated with proximity to the center (r2=0.88). Guttae were present to a greater extent in the inferior portion of the cornea (65.8% to 69.8%), an effect that was strongly significant across 24 images (p=0.0003). A similar tendency toward the temporal cornea was observed (p<0.05).

Conclusions: : We demonstrate an objective, quantitative progression of FCD using retroillumination photography. Progression is evidenced by an increase in the absolute number of guttae. Advanced disease begins with confluence proximal to the center, where density appears to exhibit the greatest increase. Significantly more guttae were appreciated in the inferior and temporal aspects of the cornea, an effect that persists over time.

Keywords: cornea: endothelium • imaging methods (CT, FA, ICG, MRI, OCT, RTA, SLO, ultrasound) • genetics 
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