A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
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Nielsen K, Orntoft T, Hjortdal J, Rasmussen T, Ehlers N
A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
Cornea. 2008 Jan;27(1):100-2. doi: 10.1097/ICO.0b013e31815652fd.
- PubMed ID
- 18245975 [ View in PubMed]
- 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.