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Glaucoma represents a heterogeneous group of optic neuropathies, with different genetic bases. It can affect all ages, generally with a rise in intraocular pressure. Three major types of glaucoma have been reported: primary open angle (POAG), primary acute closed angle (PACG) and primary congenital (PCG), as well as a few others associated with developmental abnormalities. In recent years impressive progress has been made in the molecular genetic studies of POAG and PCG. These include the discovery of three genes - myocilin, optineurin and CYP1B1 - defects in which results in Mendelian transmission of glaucoma. Identification of single nucleotide polymorphisms in multiple other genes that are associated with glaucoma and alteration of drug sensitivity are enriching our knowledge regarding the complex nature of the disease. This review attempts to present the recent progress made in the molecular genetics of glaucoma.
Dr. K. Ray, Human Genetics and Genomics Division, Indian Institute of Chemical Biology, 4 Raja S.C. Mullick Road, Jadavpur, Kolkata 700 032
3.4 Molecular genetics (Part of: 3 Laboratory methods)