Identification of a gene that causes primary open angle glaucoma |
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Authors: | EM Stone JH Fingert WL Alward TD Nguyen JR Polansky SL Sunden D Nishimura AF Clark A Nystuen BE Nichols DA Mackey R Ritch JW Kalenak ER Craven VC Sheffield |
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Affiliation: | Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA. |
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Abstract: | Glaucoma is a major cause of blindness and is characterized by progressive degeneration of the optic nerve and is usually associated with elevated intraocular pressure. Analyses of sequence tagged site (STS) content and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidate genes for mutation screening. A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the population studied). One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies. |
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