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A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family
Kim Nielsen1, Torben Orntoft, Jesper Hjortdal
1Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark. nikim@as.aaa.dk
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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