Related Experiment Videos
Molecular confirmation of carriers for Lowe syndrome
T Lin1, R A Lewis, R L Nussbaum
1Laboratory of Genetic Disease Research, National Human Genome Research Institute, NIH, Bethesda, MD 20892-4472, USA.
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.