Titre du document / Document title

The genetics of cornea plana congenita

Auteur(s) / Author(s)

TAHVANAINEN E. ⁽¹⁾ ; FORSIUS H. ; KOLEHMAINEN J. ⁽¹⁾ ; DAMSTEN M. ; FELLMAN J. ; DE LA CHAPELLE A. ⁽¹⁾ ;

Affiliation(s) du ou des auteurs / Author(s) Affiliation(s)

⁽¹⁾ Univ. Helsinki, dep. medical genetics, 00014 Helsinki, FINLANDE

Résumé / 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 43.4 (SD 1.5 D) for men and 43.7 (SD 1.6D) for women, whereas in 51 subjects affected with CNA2 the mean value was 29.9 (SD 5.2 D) and in five subjects affected with CNA1 the mean value was 37.8 (SD 1.6 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.

Revue / Journal Title

Journal of medical genetics   ISSN 0022-2593   CODEN JMDGAE 

Source / Source

1996, vol. 33, n^o2, pp. 116-119 (17 ref.)

Langue / Language

Anglais

Editeur / Publisher

BMJ, London, ROYAUME-UNI  (1964) (Revue)

Mots-clés anglais / English Keywords

Cornea plana ; Congenital ; Genetic inheritance ; Classification ; Phenotype ; Genotype ; Family study ; Human ; Linkage ; Dominant character ; Recessive character ; Eye disease ; Keratopathy ; Genetic disease ; Genetics ;

Mots-clés français / French Keywords

Cornea plana ; Congénital ; Déterminisme génétique ; Classification ; Phénotype ; Génotype ; Etude familiale ; Homme ; Linkage ; Caractère dominant ; Caractère récessif ; Oeil pathologie ; Kératopathie ; Maladie héréditaire ; Génétique ;

Mots-clés espagnols / Spanish Keywords

Córnea plana ; Congénito ; Determinismo genético ; Clasificación ; Fenotipo ; Genotipo ; Estudio familiar ; Hombre ; Ligamiento ; Carácter dominante ; Carácter recesivo ; Ojo patología ; Queratopatía ; Enfermedad hereditaria ; Genética ;

Localisation / Location

INIST-CNRS, Cote INIST : 12125, 35400005274882.0070