Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state.
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.
Fagerholm
P
P
S:t Erik's Eye Hospital, Stockholm, Sweden.
Annerén
G
G
Wadelius
C
C
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
D004247:DNA