IDENTIFICATION OF A GENE THAT CAUSES PRIMARY OPEN-ANGLE GLAUCOMA

Glaucoma is a major cause of blindness and is characterized by progres sive degeneration of the optic nerve and is usually associated with el evated intraocular pressure. Analyses of sequence tagged site (STS) co ntent and haplotype sharing between families affected with chromosome 1q-linked open angle glaucoma (GLC1A) were used to prioritize candidat e genes for mutation screening. A gene encoding a trabecular mesh-work protein (TIGR) mapped to the narrowest disease interval by STS conten t and radiation hybrid mapping. Thirteen glaucoma patients were found to have one of three mutations in this gene (3.9 percent of the popula tion studied). One of these mutations was also found in a control indi vidual (0.2 percent). Identification of these mutations will aid in ea rly diagnosis, which is essential for optimal application of existing therapies.