[Aniridia in a family characterized by low penetration].
Familial aniridia is an hereditary condition with dominant transmission. The frequency of associated lesions appears to indicate that absence of the iris is only the primary sign of an anomaly of development of the entire eye, derivatives of the ectoderm being predominantly affected. The authors examined the presence of familial anridia through 4 generations, characterized by low penetration and cataract predominantly of the right eye.
D000328:Adult; D000368:Aged; D002386:Cataract / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged
Aniridie, une famille à degré de pénétrance faible.