The Role of Galactosylceramidase in Glaucoma

This represents the first report of genomic copy number variants that confer a substantially increased risk of POAG. Considering how common CNVs are in the human genome this may be the first of many such associations. Further characterization of the GALC CNVs will improve our understanding of the etiology of primary open angle glaucoma, and could lead to the development of new tests or treatments for this debilitating disease.