title: Granular corneal dystrophy Groenouw type I. 115 Danish patients. An epidemiological and genetic population study.
abstract: An epidemiological and genetic study in Denmark of granular corneal dystrophy Groenouw type I is described. Ninety-one living patients were found. The disease is inherited as an autosomal dominant trait with a 100% penetrance of the gene. The 91 cases could be traced back to 6 different mutations. The mutation rate was estimated to be about 0.3/1,000,000; the possible sources of error of this estimate are discussed. The age distribution of the patients is shown to be similar to that of the Danish population in general.
authors.affiliation: Department of Ophthalmology, Aarhus University Hospital, Denmark.
authors.forename: H U
authors.initials: HU
authors.lastname: Møller
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D001723:Birth Rate; D002648:Child; D003317:Corneal Dystrophies, Hereditary / Q000453:epidemiology* / Q000235:genetics; D003718:Denmark / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012737:Sex Factors