May 2007
Volume 48, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2007
Disease Severity and Family History in Keratoconus
Author Affiliations & Notes
  • L. B. Szczotka-Flynn
    Case Western Reserve Univ, Cleveland, Ohio
    Ophthalmology,
    UH Case Medical Center, Cleveland, Ohio
  • S. K. Iyengar
    Case Western Reserve Univ, Cleveland, Ohio
    Epidemiology and Biostatistics,
  • M. Slaughter
    Case Western Reserve Univ, Cleveland, Ohio
    Epidemiology and Biostatistics,
  • T. McMahon
    Ophthalmology, University of Illinois-Chicago, Chicago, Illinois
  • J. Barr
    College of Optometry, The Ohio State University, Columbus, Ohio
  • B. Fink
    College of Optometry, The Ohio State University, Columbus, Ohio
  • T. Edrington
    Southern California College of Optometry, Fullerton, California
  • M. Belin
    Albany Medical Center, Slingerlands, New York
  • J. Lass
    Case Western Reserve Univ, Cleveland, Ohio
    Ophthalmology,
    UH Case Medical Center, Cleveland, Ohio
  • CLEK Study Group
    Case Western Reserve Univ, Cleveland, Ohio
  • Footnotes
    Commercial Relationships L.B. Szczotka-Flynn, None; S.K. Iyengar, None; M. Slaughter, None; T. McMahon, None; J. Barr, None; B. Fink, None; T. Edrington, None; M. Belin, OCULUS GmbH, C; J. Lass, None.
  • Footnotes
    Support NIH R21 (EY015145 HIGHWIRE EXLINK_ID="48:5:1839:1" VALUE="EY015145" TYPEGUESS="GEN" /HIGHWIRE )
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 1839. doi:
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    • Get Citation

      L. B. Szczotka-Flynn, S. K. Iyengar, M. Slaughter, T. McMahon, J. Barr, B. Fink, T. Edrington, M. Belin, J. Lass, CLEK Study Group; Disease Severity and Family History in Keratoconus. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1839.

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

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Abstract

Purpose:: To determine if self-reported family history of keratoconus is associated with greater disease severity.

Methods:: Markers of disease severity in the Collaborative Longitudinal Evaluation of Keratoconus (CLEK) Study cohort were assessed to determine if they could discriminate individuals with and without family history (assessed by self-report of the CLEK patient, about parent, child, sibling, aunt or uncle only). Univariate logistic regression was used to examine corneal scarring, average corneal power, and higher order Root Mean Square (RMS) wavefront error to determine if any of these variables predicted family history. Additionally, demographic variables such as contact lens use, gender, and race, were evaluated. In a second logistic regression analysis, demographic confounding variables were controlled and markers of disease severity were again assessed for their association with family history.

Results:: In univariate analyses, none of the severity indices had significant associations with family history; however, contact lens use [1.587 (1.056, 2.383)], gender [male vs. female referent 0.504 (0.371, 0.685)], and Caucasian race [1.718 (1.114, 2.650)] were found to be significant predictors. After controlling for contact lens use, gender, and race, there were no significant associations between corneal scarring, average corneal power, and higher order Root Mean Square (RMS) wavefront error and family history.

Conclusions:: Positive family history of keratoconus is not associated with more severe clinical disease, at least when each surrogate for severity is considered independently. These analyses suggest that in genetic studies of keratoconus, recruitment of keratoconus patients across all stages of disease severity is feasible because it does not influence familial aggregation. Greater disease burden may be observed in families where multiple features segregate jointly, but this does not preclude us from utilizing families where only a few of the component features segregate for disease gene mapping.

Keywords: keratoconus 
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