The Study of Familial POAG in West Africa

Project Summary

Primary open-angle glaucoma (POAG) is a complex inherited disease and the most common form of glaucoma in the US. It is 4 to 6 times more prevalent and more severe in African Americans of West African descent. This project is aimed at determining whether a region of chromosome 15 is linked to POAG in families in the West African nation of Ghana. A recent study of this African population identified two novel mutations in the myocilin gene associated with POAG. (The study was conducted by Dr. Rand Allingham with Dr. Herndon in a previous NGR study). Although these mutations are present, they play only a limited role in the pathogenesis of POAG. Dr. Herndon is focusing his efforts on identifying other POAG susceptibility genes, looking specifically at the DNA of individuals with a family history of the disease. He will identify and examine 25 families with three or more individuals affected with POAG in Ghana and obtain blood samples from these patients. Because this investigator and co-workers have an established relationship with a major eye clinic in Ghana, Dr. Herndon is well-suited to undertake the proposed studies. Identifying the genetic causes of POAG will enable the development of techniques for early diagnosis and novel approaches for treatment.