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Glaucoma represents a group of optic neuropathies with different genetic basis. Glaucoma is a leading cause of blindness in virtually every country. In India, ~1.5 million people are blind due to glaucoma. Glaucoma is characterized by an optic neuropathy involving a loss of neurons within the optic nerve, giving a characteristic deformation known as glaucomatous optic disc cupping. It will have an associated alteration of the visual field and elevation of intraocular pressure.

Mutations in the MYOC gene at the GLC1A locus on chromosome 1q21-q31, CYP1B1 gene at the GLC3A locus on chromosome 2p21, OPTN gene at the GLC1E locus on chromosome 10p14 and WDR36 gene at the GLC1G locus on chromosome 5q22.1 have been found in patients with glaucoma.

 

The aim of this work is to

1. identify the genetic cause of glaucoma in a large collection of Indian families affected with primary open angle glaucoma (POAG; juvenile and adult onset) and primary congenital glaucoma (PCG).

 

Related Publications:

1.  Kumar, A., Basavaraj, M.G., Gupta, S.K., Qamar, I., Ali, A.M., et al.   Mol Vis (2007)  13:667-676. (full text: HTML/PDF)