Uncovering The Aetiology Of Myopia Through Identification Of Refraction And Ocular Biometric Genes
Funder
National Health and Medical Research Council
Funding Amount
$697,786.00
Summary
Myopia or short-sightedness affects 1 in 4 people in the Western world and is a major source of uncorrected vision loss, as well as blindness. This proposal aims to identify genes in myopia using a new technique called genome wide association. We will apply this technique to individuals collected through a population based Eye study to allow us to identify these genes. The outcomes of this work will allow us to identify high risk individuals as well as develop new measures to prevent myopia.
Understanding The Genetic Determinants Of Central Corneal Thickness And Its Functional Role In Glaucoma Pathophysiology
Funder
National Health and Medical Research Council
Funding Amount
$297,263.00
Summary
Glaucoma is a common cause of blindness and visual diability in Australia. It is caused by a combination of environmental and genetic factors. People with a thin cornea (the clear covering at the front of the eye) are at increased risk of glaucoma. We are investigating the biological link between the cornea and glaucoma as well as identifying genes that determine corneal thickness. Some of these genes may also cause glaucoma. Understanding this will lead to better diagnosis and treatment.
The Role Of Collagenase (MMP-1) In The Pathogenesis Of Human Pterygia
Funder
National Health and Medical Research Council
Funding Amount
$246,100.00
Summary
Pterygia are a common, recurrent, disfiguring, and sight-threatening disease of the human eye. This disease is extremely common world wide and particularly in the Australian aboriginal population. The triggers for this disease are unknown. Prolonged exposure to environmental elements, such as ultra violet (UV) light, is proposed to be the main initiating factor. Our previous studies have shown the important role played by a family of proteolytic enzymes (metalloproteinases) in the progressive an ....Pterygia are a common, recurrent, disfiguring, and sight-threatening disease of the human eye. This disease is extremely common world wide and particularly in the Australian aboriginal population. The triggers for this disease are unknown. Prolonged exposure to environmental elements, such as ultra violet (UV) light, is proposed to be the main initiating factor. Our previous studies have shown the important role played by a family of proteolytic enzymes (metalloproteinases) in the progressive and invasive nature of pterygia. We have significant preliminary evidence that a large percentage of patients with pterygia carry a mutation in one of these enzymes (collagenase-1). This is the most abundant enzyme expressed in pterygium tissue and probably plays a major role in invasion and progression in this disease. UV light activates cells in pterygia to induce expression of collagenase-1. This study will determine whether or not people with a genetic predisposition are more likely to develop pterygia and whether or not environmental factors, such as UV light, trigger progression of disease. If this is the case, then subjects with this genetic predisposition would be at increased risk for the development of pterygia (and their complications) and could be advised to take preventative measures to minimize the risk of developing this disease.Read moreRead less
Genetic Determinants Of Inherited Optic Neuropathies
Funder
National Health and Medical Research Council
Funding Amount
$249,750.00
Summary
Glaucoma is a slowly progressive visual disorder of the optic nerves often but not always associated with elevated pressure in the eyes. There is a strong genetic component. It is estimated to affect in excess of 60 million people worldwide with more than 6 million of those blind in both eyes. It is the second commonest cause of visual impairment in the developed world, and is present in up to 10% of the population by age 90. Numbers of affected patients in Australia are expected to double in th ....Glaucoma is a slowly progressive visual disorder of the optic nerves often but not always associated with elevated pressure in the eyes. There is a strong genetic component. It is estimated to affect in excess of 60 million people worldwide with more than 6 million of those blind in both eyes. It is the second commonest cause of visual impairment in the developed world, and is present in up to 10% of the population by age 90. Numbers of affected patients in Australia are expected to double in the next 30 years. Current methods of early detection and treatment are often inadequate, and associated visual loss is irreversible. There is a strong need for greater understanding of the disease process and new strategies to prevent and treat visual loss. Two less common causes of untreatable optic nerve blindness are Leber Hereditary Optic Neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) which occur in younger age groups than most cases of glaucoma, and hence sufferers may experience substantial physical, emotional and economic hardship. Over a 10 year period we have seen large numbers of patients with all three eye conditions and have developed a powerful study to determine the genes which cause optic nerve blindness and their relative importance. The research is gathering momentum and the genetics of all 3 conditions are now partly understood. This project seeks to analyse a new major glaucoma gene (Optineurin) in our Australian population and to try to understand the way in which a number of genes interact to cause blindness in some patients but not others. This work will lead to greater understanding of these causes of blindness and is likely to lead to new screening tests to know who is at most risk, and the opportunity to develop and test new treatments targeted to the underlying genetic problem.Read moreRead less