Molecular confirmation of carriers for Lowe syndrome.

Abstract

To determine the sensitivity and specificity of ocular examination for the carrier state of Lowe syndrome in females known to be either carriers or noncarriers by direct DNA diagnosis. Nonrandomized cohort study. Thirty-one females at risk for carrying Lowe syndrome in 3 families. Slit-lamp biomicroscopy after pupillary dilation was performed by a single observer (RAL) who was masked as to carrier status as determined by allele-specific detection of mutations in genomic DNA. Carrier assessment predetermined by slit-lamp biomicroscopic examination yielded only one false-negative in a young girl 5 years of age and no false-positives among 31 female members examined. Slit-lamp examination is a highly accurate and sensitive test for carrier detection in Lowe syndrome, particularly in women of reproductive age.