title: The genetics of cornea plana congenita.
abstract: Cornea plana congenita is believed to occur in a mild autosomal dominant (CNA1) and a more severe autosomal recessive (CNA2) form. We recently assigned a CNA2 locus to a region on chromosome 12 by linkage analysis. In this study we compared these traits clinically and genetically. Using the horizontal corneal refraction value in diopters (D) as a parameter, a control population (n = 473) had a mean value of 43 center dot 4 (SD 1 center dot 5 D) for men and 43 center dot 7 (SD 1 center dot 6 D) for women, whereas in 51 subjects affected with CNA2 the mean value was 29 center dot 9 (SD 5 center dot 2 D) and in five subjects affected with CNA1 the mean value was 37 center dot 8 (SD 1 center dot 6 D). By linkage analysis in two CNA1 families the CNA2 locus could be conclusively excluded. These data suggest that at least two forms of hereditary cornea plana exist which are both clinically and genetically distinct.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: E
authors.initials: E
authors.lastname: Tahvanainen
authors.forename: H
authors.initials: H
authors.lastname: Forsius
authors.forename: J
authors.initials: J
authors.lastname: Kolehmainen
authors.forename: M
authors.initials: M
authors.lastname: Damsten
authors.forename: J
authors.initials: J
authors.lastname: Fellman
authors.forename: A
authors.initials: A
authors.lastname: de la Chapelle
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D003315:Cornea / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005387:Finland / Q000453:epidemiology; D005799:Genes, Dominant; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012031:Refractometry