Journal
CORNEA
Volume 31, Issue 1, Pages 26-35Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/ICO.0b013e31821c9b8f
Keywords
heritability; Fuchs dystrophy; corneal thickness; genetics
Categories
Funding
- National Eye Institute [R01EY16482, R21 EY015145, P30 EY11373]
- Research to Prevent Blindness
- Ohio Lions Eye Research Foundation
- US Public Health Service [RR03655]
- National Center for Research Resources
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Purpose: To describe the methods for family and case-control recruitment for a multicenter genetic and associated heritability analyses of Fuchs endothelial corneal dystrophy (FECD). Methods: Twenty-nine enrolling sites with 62 trained investigators and coordinators gathered individual and family information, graded the phenotype, and collected blood and/or saliva for genetic analysis on all individuals with and without FECD. The degree of FECD was assessed in a 0 to 6 semiquantitative scale using standardized clinical methods with pathological verification of FECD on at least 1 member of each family. Central corneal thickness was measured by ultrasonic pachymetry. Results: Three hundred twenty-two families with 330 affected sibling pairs with FECD were enrolled and included a total of 650 sibling pairs of all disease grades. Using the entire 7-step FECD grading scale or a dichotomous definition of severe disease, heritability was assessed in families via sib-sib correlations. Both binary indicators of severe disease and semiquantitative measures of disease severity were significantly heritable, with heritability estimates of 30% for severe disease, 37% to 39% for FECD score, and 47% for central corneal thickness. Conclusions: Genetic risk factors have a strong role in the severity of the FECD phenotype and corneal thickness. Genotyping this cohort with high-density genetic markers followed by appropriate statistical analyses should lead to novel loci for disease susceptibility.
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