A Novel Mutation as the Basis for Asymptomatic Meesmann Dystrophy in a Danish Family
Meesmann dystrophy is a rare inherited corneal disease. This is the description of a unique family in Denmark.Methods:
The family members were examined by biomicroscopy. Blood samples were collected. DNA from the leukocyte population was isolated, and the cytokeratin 12 (KRT12) gene was partially sequenced.Results:
This Danish family harbors a 451G→T mutation. All patients in this family that harbor mutations also show microcysts, but none have any symptoms.Conclusions:
This is the second family recently diagnosed with Meesmann dystrophy in Denmark. The family represents its own distinct genotype, independent of previously reported ones. All patients with microcysts were asymptomatic.