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Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity.

Authors
Type
Published Article
Journal
Clinical genetics
Publication Date
Volume
41
Issue
2
Pages
65–69
Identifiers
PMID: 1544213
Source
Medline
License
Unknown

Abstract

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.

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