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When Does Information Become Medically Useful?
The Role of Genetic Testing in Glaucoma
Arch Ophthalmol. 2002;120:1204-1205.
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IN THIS ISSUE of the ARCHIVES, Alward and coworkers1
describe the prevalence of "plausible disease causing-sequence variations
(DCVs) in the MYOC [myocilin] gene" among a large
unselected group of consecutive patients with a variety of open-angle glaucomas
in a tertiary glaucoma practice. Their finding that DCVs occur in approximately
3% and 6% of patients with adult-onset primary open-angle glaucoma (POAG)
and with juvenile open-angle glaucoma (JOAG), respectively, confirms findings
from earlier reports.2-4
None of the normal subjects exhibited DCVs in the myocilin coding sequence.
If a new commercially available product, the OcuGene Test (Insite Vision,
Alameda, Calif) had been used to screen this population, none of the 13 patients
with adult-onset POAG with DCVs would have been detected. The OcuGene test
also determines the presence of a polymorphism in the promoter region of the
myocilin gene (MYOC.mt1) that has recently been described by Colomb and colleagues5 as being an indicator . . . [Full Text of this Article]
RELATED ARTICLE
Variations in the Myocilin Gene in Patients With Open-Angle Glaucoma
Wallace L. M. Alward, Young H. Kwon, Cheryl L. Khanna, A. Tim Johnson, Sohan S. Hayreh, M. Bridget Zimmerman, Joanna Narkiewicz, Jeaneen L. Andorf, Paula A. Moore, John H. Fingert, Val C. Sheffield, and Edwin M. Stone
Arch Ophthalmol. 2002;120(9):1189-1197.
ABSTRACT
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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
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Overview
Mackey
Br. J. Ophthalmol. 2003;87:637-638.
FULL TEXT
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