Granular corneal dystrophy Groenouw type I. 115 Danish patients. An epidemiological and genetic population study

Acta Ophthalmol (Copenh). 1990 Jun;68(3):297-303. doi: 10.1111/j.1755-3768.1990.tb01925.x.

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.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Birth Rate
  • Child
  • Corneal Dystrophies, Hereditary / epidemiology*
  • Corneal Dystrophies, Hereditary / genetics
  • Denmark / epidemiology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Sex Factors