Mutations Related to Severe Avellino Corneal Dystrophies and Use Thereof

摘要

The present invention relates to a gene marker of Abelino corneal dystrophy And a detection means for additionally detecting at least one mutation of H174D, I247N and R179X in addition to the R124H mutation on the TGFBI gene. The present invention can reliably predict the genetic risk of severe Abelino corneal dystrophy through simple immunological analysis or genotypic analysis. In addition, the present invention can be usefully used as a method for early measurement or prediction of the possibility of severe Abelino corneal dystrophy in a child when a parent has general Abelino corneal dystrophy.