Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.
Congenital cataract is a heterogeneous disorder. Approximately one third of the cases are hereditary. A large family with autosomal dominant congenital cataract is described here. Clinical examinations showed variable expressivity, but all affected persons were eventually operated, most of them in the first or second decade of life. Linkage relations with a number of polymorphic marker systems were studied, all of them being negative. Among the 21 systems studied were Fy, HP, D16S4 and CRYG. The present autosomal dominant congenital cataract is termed the Volkman cataract, after the ancestor in the pedigree, and is genotypically different from the Marner cataract found in another large Danish pedigree.
Lund
A M
AM
Division of Pediatric Ophthalmology and Handicaps, Gentofte Hospital, Denmark.
Eiberg
H
H
Rosenberg
T
T
Warburg
M
M
D002386:Cataract / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree