Article
Screening the visual system homeobox 1 gene in keratoconus and posterior polymorphous dystrophy cohorts identifies a novel variant.
Molecular vision - 1 Jan 2013
Vincent Andrea L, Jordan Charlotte, Sheck Leo, Niederer Rachel, Patel Dipika V, McGhee Charles N J
Abstract excerpt
PURPOSE: Mutations in the visual system homeobox 1 (VSX1) gene have been described at a low frequency in keratoconus and posterior polymorphous corneal dystrophy (PPCD). The putative role is controversial for several reasons, including a lack of mutations detected in other population cohorts. This study aims to determine whether VSX1 contributes to the genetic pathogenesis of keratoconus and PPCD in a New Zealand...
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