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Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state.

作者信息

Fagerholm P, Annerén G, Wadelius C

机构信息

S:t Erik's Eye Hospital, Stockholm, Sweden.

出版信息

Acta Ophthalmol (Copenh). 1991 Feb;69(1):102-4. doi: 10.1111/j.1755-3768.1991.tb02002.x.

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.

摘要

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