Granular corneal dystrophy Groenouw type I 115 Danish patients

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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.