<i>VSX1</i>Mutational Analysis in a Series of Italian Patients Affected by Keratoconus: Detection of a Novel Mutation

Abstract

Mutational analysis of the VSX1 gene in a series of Italian patients revealed one novel mutation and confirmed an important role played by this gene in a significant proportion of patients affected by keratoconus, when it is inherited as an autosomal dominant trait with variable expressivity and incomplete penetrance.