Molecular confirmation of carriers for Lowe syndrome.

OBJECTIVE: 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.

DESIGN: Nonrandomized cohort study.

PARTICIPANTS: Thirty-one females at risk for carrying Lowe syndrome in 3 families.

METHODS: 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.

RESULTS: 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.

CONCLUSIONS: Slit-lamp examination is a highly accurate and sensitive test for carrier detection in Lowe syndrome, particularly in women of reproductive age.