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.
|
Authors | T Lin, R A Lewis, R L Nussbaum |
Journal | Ophthalmology
(Ophthalmology)
Vol. 106
Issue 1
Pg. 119-22
(Jan 1999)
ISSN: 0161-6420 [Print] United States |
PMID | 9917791
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Proteins
- Phosphoric Monoester Hydrolases
- OCRL protein, human
|
Topics |
- Adolescent
- Adult
- Child
- Child, Preschool
- Cohort Studies
- DNA Mutational Analysis
- Female
- Fundus Oculi
- Genetic Carrier Screening
- Genetic Linkage
(genetics)
- Humans
- Male
- Middle Aged
- Mutation, Missense
- Oculocerebrorenal Syndrome
(genetics, pathology)
- Pedigree
- Phosphoric Monoester Hydrolases
- Proteins
(genetics)
- Sensitivity and Specificity
- X Chromosome
(genetics)
|