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Case Reports
. 1976 Dec;13(6):449-54.
doi: 10.1136/jmg.13.6.449.

Lowe's syndrome: identification of carriers by lens examination

R J Gardner, N Brown
Case Reports

Lowe's syndrome: identification of carriers by lens examination

R J Gardner et al. J Med Genet. 1976 Dec.

Abstract

Lens examinations were performed on 7 obligate and 7 possible carriers of the X-linked gene for Lowe's syndrome, and on 117 controls. By quantitatively grading punctate cortical opacities, it was possible to discriminate between the obligate carriers and the controls with a fair degree of confidence. In the age group most important for genetic counselling, that of child bearing, the data are too limited for the derivation of precise estimates, but may, nevertheless, be useful. More such data are needed.

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