Mutational Analysis of VSX-1 in One Patient with Posterior Polymorphous Corneal Dystrophy and in Three Families with Hereditary Fuchs Endothelial Dystrophy

Background: Fuchs endothelial corneal dystrophy is the most common disease of the corneal endothelium. Besides some sporadic cases, an autosomal dominant inheritance is frequently described. Mutations in the VSX-1 gene are identified as the underlying gene defect for a rarer kind of endothelial dystrophy, posterior polymorphous endothelial dystrophy. We report on mutational analysis of the VSX-1 gene in affected and non-affected family members of three families with autosomal dominant inherited Fuchs endothelial corneal dystrophy and one male patient showing posterior polymorphous endothelial dystrophy. Patients/Materials and Methods: From one patient with posterior polymorphous endothelial dystrophy and 10 affected and 15 non-affected family members of three families with autosomal dominant inherited Fuchs endothelial corneal dystrophy DNA was extracted from leukocytes of the peripheral blood and mutational analysis was performed by direct sequencing of the VSX-1 gene. Results: Screening of the VSX-1 gene did not reveal sequence variants in any affected or non-affected individuals from the three families with Fuchs endothelial corneal dystrophy or the patient with posterior polymorphous endothelial dystrophy. Conclusions: The absence of pathogenic mutations in the VSX-1 gene in affected family members of 3 pedigrees indicates that other genetic factors are involved in the development of familial Fuchs endothelial corneal dystrophy. In addition, VSX-1 seems unlikely to be the crucial gene in our patient with posterior polymorphous endothelial dystrophy.