Molecular Characterization of Primary Open Angel Glucoma In Indian Patients.

Abstract

Glaucoma, a heterogeneous group of neurodegenerative disorders of the eye, affects about 67 million people worldwide. In India about 1.5 million people are blind due to glaucoma. Among different subtypes, Primary Open Angle Glaucoma (POAG) is the most common form of the disease where loss of vision is progressive and often silent. To find the genetic basis of the disease among Indians, I have been involved in screening for mutation in multiple candidate genes, both implicated and projected based on the expression in trabecular meshwork (TM) cells and evaluation of the allelic variants including functional analysis where feasible and warranted. In addition, potential functional implication for the digenic mode of inheritance of MYOC and CYP1B1 defects has been examined, and potential association of p53 polymorphism with POAG has been investigated to explore the complex nature of the disease. In most cases, the study was conducted using a pool of 200 unrelated POAG patients comprising 155 sporadic and 45 familial cases and 100 unrelated ethnically matched controls. A brief overview of the findings from the studies is presented below