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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]

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