T Lin1, R A Lewis, R L Nussbaum. 1. Laboratory 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.
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.
Authors: G Rudolph; P Kalpadakis; W Röschinger; C Haritoglou; S Kammerer; K-P Boergen; A Kampik Journal: Ophthalmologe Date: 2004-06 Impact factor: 1.059