No Pathogenic Mutations Identified in the<i>COL8A1</i>and<i>COL8A2</i>Genes in Familial Fuchs Corneal Dystrophy

Abstract

The Arg434His mutation in the COL8A2 gene, previously associated with FECD, has been shown not to segregate with the disease phenotype, and thus may not be considered a disease-causing mutation. The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD indicates that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy.