title: A novel mutation as the basis for asymptomatic meesmann dystrophy in a Danish family.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Aarhus University Hospital, Aarhus, Denmark. nikim@as.aaa.dk
authors.forename: Kim
authors.initials: K
authors.lastname: Nielsen
authors.forename: Torben
authors.initials: T
authors.lastname: Orntoft
authors.forename: Jesper
authors.initials: J
authors.lastname: Hjortdal
authors.forename: Tommy
authors.initials: T
authors.lastname: Rasmussen
authors.forename: Niels
authors.initials: N
authors.lastname: Ehlers
mesh_terms: 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
chemical_list: C507494:KRT12 protein, human; D053551:Keratin-12