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Cornea. 2008 Jan;27(1):100-2. doi: 10.1097/ICO.0b013e31815652fd.

A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.

Author information

1
Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark. nikim@as.aaa.dk

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.

PMID:
18245975
DOI:
10.1097/ICO.0b013e31815652fd
[Indexed for MEDLINE]
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