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K. Nielsen, J. Hjortdal, T. F. Orntoft, N. Ehlers; Danish Family With Meesmann's Dystrophy. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5853.
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Meesmann's dystrophy is considered to be a rare inherited disease with unknown prevalence. This is the description of a new family from Denmark (5.4 million citizens).
The family members were examined by biomicroscopy. Blood samples were colleted and DNA from the leukocyte population was isolated. The cytokeratin 12 gene was partially sequenced.
Several family members showed innumerous microcysts in the corneal epithelium. The members with microcysts all harbored a 451G->T mutation in the cytokeratin 12 gene. No mutation was observed in members without the presence of microcysts.
This is the second family recently diagnosed with Meesmann's dystrophy in Denmark indicating that the disease could be more frequent than first expected. The family represents its own distinct genotype, independent of previously described families.
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