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

ABSTRACT:

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 incl

SUBMITTER: Louttit MD 

PROVIDER: S-EPMC3719980 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature