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