A multicenter study to map genes for Fuchs endothelial corneal dystrophy: Baseline characteristics and heritability

Megan D. Louttit, Laura J. Kopplin, Robert P. Igo, Jeremy R. Fondran, Angela Tagliaferri, David Bardenstein, Anthony J. Aldave, Christopher R. Croasdale, Marianne O. Price, George O. Rosenwasser, Jonathan H. Lass, Sudha K. Iyengar, Francis W. Price, Kathleen Kelly, Stephen Hamilton, Barry Lee, Sanjay Patel, Keith H. Baratz, William Bourne, Leo MaguireWilliam Reinhart, George Rosenwasser, David D. Verdier, Vinod Mootha, Wayne Bowman, H. Dwight Cavanagh, James P. McCulley, Steven Verity, Joel Sugar, Elmer Tu, Matthew S. Oliva, Walter M. Rotkis, Richard Yee, Mark Vital, James W. Caudill, Kristin Hammersmith, Brandon Ayres, Elizabeth Cohen, Peter Laibson, Christopher Rapuano, Kathryn Colby, Ula Jurkunas, Steven P. Dunn, David G. Heidemann, Alan Sugar, Shahzad Mian, H. Kaz Soong, Eduardo Alfonso, Carol Karp, Yunhee Lee, Sonia Yoo, Mark Gorovoy, Steven I. Rosenfeld, Marlene Brown, Elizabeth A. Davis, Ahmad Fahmy, David R. Hardten, Scott Hauswirth, Richard L. Lindstrom, Mark D. Mifflin, Randall Olson, Donald Stone, B. J. Dupps, David M. Meisler, Brandon Suedekum, Neda Shamie, Mark A. Terry, Samir Shah, Michael W. Belin, Todd Morason, Robert L. Schultze, Paul G. Galentine

Research output: Contribution to journalArticlepeer-review

43 Scopus citations


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.

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).

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.

Original languageEnglish (US)
Pages (from-to)26-35
Number of pages10
Issue number1
StatePublished - Jan 1 2012


  • Corneal thickness
  • Fuchs dystrophy
  • Genetics
  • Heritability

ASJC Scopus subject areas

  • Ophthalmology


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