MUTATIONS RELATED TO SEVERE AVELLINO CORNEAL DYSTROPHIES AND USE THEREOF

摘要

The present invention relates to a kit for diagnosing severe Avellino corneal dystrophy, the kit comprising a detection unit for further detecting at least one mutation of H174D, I247N, and R179X, in addition to R124H mutation on the TGFBI gene, which is a conventionally known gene marker for Avellino corneal dystrophy. The present invention can predict the genetic risk of severe Avellino corneal dystrophy at high reliability through simple immunological analysis or genotype analysis. In addition, the present invention can be favorably used for a method for measuring or predicting the possibility of occurrence of severe Avellino corneal dystrophy at the early stage when parents have general Avellino corneal dystrophy.