The investigator proposes to explore the molecular biology of primary open angle glaucoma. They have mapped phenotypically classically high intraocular pressure adult onset open angle glaucoma to chromosome 3q. They report that their families have late onset glaucomatous optic neuropathy. This suggests that their gene may be more relevant to the study of open angle glaucoma than those reported by other investigators. They suggest that these investigations will be an important step in providing a diagnostic tool for glaucoma, improving drug therapy, and perhaps leading eventually to gene therapy. They propose three specific aims. First, they intend to gather data and blood samples from families with a positive open angle glaucoma family history. They intend to determine if open angle glaucoma in these families is linked to regions on chromosome 1, 2 or 3. They will lay out rigorous criteria for identifying open angle glaucoma. They note that three loci have now been mapped. Identifying families in which OAG maps to one of these regions will help to refine these locations and clarify the associated phenotypes.
In specific aim 2, they intend to narrow the open angle glaucoma region on chromosome 3 and identify candidate genes. They intend to use the technique of saturation mapping over the open angle glaucoma region on chromosome 3 to identify recombinants in each family. Genes in this region that are also expressed in the trabecular meshwork will become prime candidate genes.
In specific aim 3, they intend to look for OAG families which do not localize to 1, 2 or 3, using a genome wide mapping strategy.
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