Clinical Genetics

Genetic eye diseases

Studies examining the genetic causes of glaucoma, optic atrophy, cataract, macular degeneration, retinal detachments, retinal dystrophies, strabismus, ptosis, also investigating the likely risk to relatives of developing the condition and if predictive DNA testing can identify if people are at risk of developing or carrying the disease. More than 2,000 people with glaucoma have been examined as part of the Glaucoma Inheritance Study in Tasmania over the last 15 years with over 50 papers published in relation to this study.

Twins Eye Study in Tasmania (TEST) and Brisbane

The Twins Eye Study aims to expand the research into the genetics of glaucoma by studying the heredity of clinical parameters used in diagnosing glaucoma with a focus on what genes influence intra ocular pressure, optic disc and cup size, central corneal thickness and refraction. More than 1,000 pairs of twins have been examined to date.

Norfolk Island Eye Study

Examining the distribution of eye diseases of descendants of the Bounty Mutineers on Norfolk Island, the study aims to improve our knowledge of the factors causing eye diseases including glaucoma, myopia and AMD. The effect of UV light exposure on the eye will also be investigated.