Eye Disease

Half of the Australian population report a long-term eye problem. Almost 500 000 Australians are blind or have low vision, impacting on their ability to live independently. An estimated 300 000 Australians are affected by glaucoma, although half are undiagnosed. Our research has shown that many eye conditions have a strong genetic basis.


  • identifying the genes underlying several common eye diseases
  • using genetic based approaches to identify individuals who are at high risk of eye diseases such as glaucoma
  • using genetics-based approaches to determine if there are causal links between modifiable risk factors and eye health
  • determining the genes which influence a person’s risk of glaucoma, typically via changes to intraocular pressure or susceptibility to optic nerve damage
  • investigating a person’s risk of glaucoma using a simple blood test
  • understanding time spent outdoors is likely causally related to myopia (but vitamin D levels are not) 
  • understanding myopia is causally related to retinal detachment; indicating myopia is not just something you fix with glasses, as there are other sight threatening downstream consequences
  • identifying more than 40 genes which alter the make-up of the cornea (clear outer covering of the eye); some of them confer risk of kerataconus, the leading cause of corneal transplants
  • mapping new genes influencing risk of age-related macular degeneration
  • advanced open angle glaucoma risk is dramatically increased for individuals carrying particular variants at the TMCO1 and CDKN2A genes
  • blue/non-blue eye colour is largely determined by variation in a single gene, OCA2