DISSECTING THE GENETICS OF GLAUCOMA AND ITS RISK FACTORS USING A TWIN STUDY. [ 2005 - 2007 ]

Research Grant

Researchers: Prof David Mackey (Principal investigator) ,  Prof Christopher Hammond ,  Prof Jamie Craig

Brief description Glaucoma is one of the leading causes of blindness both in Australia (affecting 2-3% of the population) and worldwide. Glaucoma is often asymptomatic until it causes permanent loss of peripheral vision that precludes 10% of individuals with the condition from holding a driver's license. Around 50% of people with glaucoma are unaware that they have the condition; therefore better screening strategies are required. Genetic factors have been shown to contribute to glaucoma and our work has revealed that 50% of people with glaucoma have a family history of the condition. Raised intraocular pressure (IOP) is a major contributing factor in glaucoma. Although there are some genes associated with high-pressure glaucoma, little is known about the heritability of IOP itself. Optic disc cupping is another important sign in the diagnosis and management of glaucoma, but again little is known of the inheritance of this feature. Twin studies, (comparing sets of identical twins with non-identical twins); allow us to estimate the relative contribution of genetic and environmental factors to disease states or physiological measurements. Although there have been small studies involving twins with glaucoma, it is unknown to what degree the basic parameters of glaucoma diagnosis such as IOP and optic disc characteristics are heritable. This project aims to conduct a large twin study into glaucoma and its associated ocular risk factors, including refractive error. We aim to identify genes that predispose to glaucoma, which will facilitate better screening for glaucoma in family members, and the general population, and ultimately leading to improved treatment.

Funding Amount $AUD 682,850.00

Funding Scheme NHMRC Project Grants

Notes Standard Project Grant