title: Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state.
abstract: The lens changes in DNA based analysis compatible carriers of the gene of Lowe's syndrome in one family are described. The lens changes consist of a large amount of characteristic punctate cortical opacities. In two of the three carriers, formed lens opacities were found, appearing like congenital riders. In one lens containing congenital-like riders a posterior subcapsular cataract had developed. In comparison with a previously examined family, the lens changes in the present family were overall much more extensive. It appears there is a variation in expressivity of the gene in carriers of different families.
authors.affiliation: S:t Erik's Eye Hospital, Stockholm, Sweden.
authors.forename: P
authors.initials: P
authors.lastname: Fagerholm
authors.forename: G
authors.initials: G
authors.lastname: Annerén
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000328:Adult; D000368:Aged; D002386:Cataract / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007908:Lens, Crystalline / Q000473:pathology; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000235:genetics*; D010375:Pedigree
chemical_list: D004247:DNA