Gene-Finding Strategy in Glaucoma

Glaucoma is a group of complex eye disorders characterized by increased intraocular pressure, optic nerve damage, and ultimately, optic nerve cupping, ending in irreversible blindness. The age of onset and the anatomy of the anterior chamber indicate that glaucoma consists of the categories of primary open-angle glaucoma, primary congenital glaucoma, and primary angle closure glaucoma. To date, many loci have shown to be associated with different types of glaucoma; however, the underlying cause of the disease remains ambiguous. Two main approaches exist to find new loci and genes associated with the disease: linkage analysis, which is applicable for large pedigrees with multiple affected and healthy individuals, and a genome-wide association study for large cohorts of sporadic cases. Careful patient selection is the first step in these kinds of genetic research. All subjects selected should be examined to identify the known gene mutations for the specific type of glaucoma. Subjects with no mutations in known genes are possible subjects of a genome-wide association study or linkage analysis.