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Lowe's oculocerebrorenal syndrome ‐ variation in lens changes in the carrier state
Author(s) -
Fagerholm Per,
Annerén Göran,
Wadelius Claes
Publication year - 1991
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.1991.tb02002.x
Subject(s) - lens (geology) , anatomy , biology , optics , physics
The lens changes in DNA based analysis compatible carriers of the gene of Lowe's syndrome in one family are discribed. 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.

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