POAG in Epirus, Greece. Fine Mapping of GLC1C Region

Project Details

Studies of families with glaucoma have helped to identify a number of genetic patterns that are characteristic of the disease. One of these is alterations in the GLC1C gene(s), which may be the predominant cause of POAG in northwestern Greece. Dr. Wirtz and her collaborators in Greece have identified a family in Epirote, Greece in which glaucoma appears to be caused by a mutation in the GLC1C gene. They have also found a large population in Epirus, Greece with POAG. It is hoped that clinical studies of the Epirote family will provide more information on the phenotypic variability associated with mutation(s) in GLC1C. Additional genetic analysis of the Epirus population will allow for more precise genetic mapping of the GLC1C gene, which should help in identifying the gene. These studies, if successful, will provide researchers with more information on the genetics of glaucoma.