Identification of a gene that causes primary open angle glaucoma

Edwin M. Stone, John H. Fingert, Wallace L.M. Alward, Thai D. Nguyen, Jon R. Polansky, Sara L.F. Sunden, Darryl Nishimura, Abbot F. Clark, Arne Nystuen, Brian E. Nichols, David A. Mackey, Robert Ritch, Jeffrey W. Kalenak, E. Randy Craven, Val C. Sheffield

Research output: Contribution to journalArticle

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 mesh-work 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.

Original languageEnglish (US)
Pages (from-to)668-670
Number of pages3
JournalScience
Volume275
Issue number5300
DOIs
StatePublished - Jan 31 1997
Externally publishedYes

ASJC Scopus subject areas

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    Stone, E. M., Fingert, J. H., Alward, W. L. M., Nguyen, T. D., Polansky, J. R., Sunden, S. L. F., Nishimura, D., Clark, A. F., Nystuen, A., Nichols, B. E., Mackey, D. A., Ritch, R., Kalenak, J. W., Craven, E. R., & Sheffield, V. C. (1997). Identification of a gene that causes primary open angle glaucoma. Science, 275(5300), 668-670. https://doi.org/10.1126/science.275.5300.668