Genetics of Primary Open-angle Glaucoma

Glaucoma is the second leading cause of blindness in the world, and adult-onset primary open-angle glaucoma (POAG) is the most prevalent form, representing 60-70% of all cases of glaucoma. My laboratory is interested in studying the genetic basis of POAG. Extensive investigations have identified a few genes associated with POAG (accounting for 5% of all POAG cases). However, our current understanding of the genes/molecular pathways that lead to the development of POAG remains limited. We will recruit a large sample of POAG patients and controls (N=1000), and analyze their DNA samples for genetic polymorphisms in order to identify the genes associated with the risk of developing POAG.

In addition, we have established a collaboration to recruit large families with POAG from the island of St. Lucia, which has the highest reported prevalence of glaucoma. We will then conduct genetic linkage analyses to identify the chromosomal regions that harbor the genes for POAG in this population.