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Ophthalmology. 1999 Jan;106(1):119-22.

Molecular confirmation of carriers for Lowe syndrome.

Author information

  • 1Laboratory of Genetic Disease Research, National Human Genome Research Institute, NIH, Bethesda, MD 20892-4472, USA.

Abstract

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.

PMID:
9917791
[PubMed - indexed for MEDLINE]
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