A Novel Mutation as the Basis for Asymptomatic Meesmann Dystrophy in a Danish Family

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Abstract

Purpose:

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.

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