Ophthalmology · 1999
Molecular confirmation of carriers for Lowe syndrome.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Lin T, Lewis R A, Nussbaum R L
Аннотация
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.
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.