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Granular corneal dystrophy Groenouw type I 115 Danish patients
Author(s) -
Møller H. U.
Publication year - 1990
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1990.tb01925.x
Subject(s) - penetrance , danish , epidemiology , population , disease , dystrophy , corneal disease , trait , medicine , genetics , biology , ophthalmology , gene , pathology , cornea , environmental health , linguistics , philosophy , phenotype , computer science , programming language
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.