Feature Article - Glaucoma Inheritance Study
Contributed by Sue Ashlin, Menzies Centre for Population Health Research
The key to early diagnosis of glaucoma may lie with the Glaucoma Inheritance Study in Tasmania.
Glaucoma is a disease in which the eye’s drainage system becomes obstructed. This causes pressure to rise, damaging the optic nerve at the back of the eye which leads to progressive loss of side vision and, if untreated, can lead to total blindness.
It is believed that up to 100,000 Australians may suffer from glaucoma, with up to half of them not knowing they have the disease. In Tasmania, there are thought to be 3000 to 4000 glaucoma sufferers.
Detecting glaucoma in its early stages without the need for complex and expensive investigations would be a major advance and may become possible through the Menzies Centre’s Glaucoma Inheritance Study in Tasmania (GIST).
The GIST is examining the premise that the principal factor used to detect glaucoma should be family history. Previously, a person with a family history of glaucoma was thought to have only about a 10% chance of developing the disease.
However, studies of family trees in Tasmania suggest that this figure may be an under-estimation of the true risk. When several relations are affected, researchers believe the risk may be as high as 50%.
The GIST has been able to construct family trees of distantly related Tasmanians and to build up profiles of those families to see whether particular individuals are likely to develop glaucoma.
From these pedigrees, researchers involved in the study hope to find a common gene that is responsible for glaucoma. If a common link to a particular gene is found, a simple blood test may be developed to test for glaucoma. It is also possible that new pharmaceutical treatments may be created as a result of a greater understanding of the gene’s function.
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