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.