A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
OBJECTIVE
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.
Nielsen
Kim
K
Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark. nikim@as.aaa.dk
Orntoft
Torben
T
Hjortdal
Jesper
J
Rasmussen
Tommy
T
Ehlers
Niels
N
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D053559:Corneal Dystrophy, Juvenile Epithelial of Meesmann / Q000208:ethnology / Q000235:genetics*; D003560:Cysts / Q000235:genetics; D004252:DNA Mutational Analysis; D003718:Denmark / Q000453:epidemiology; D005260:Female; D005838:Genotype; D006801:Humans; D053551:Keratin-12 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation
C507494:KRT12 protein, human; D053551:Keratin-12