Driving global discoveries in eye health

Australian twins have played a remarkable—yet often unsung—role in advancing our understanding of the genetic basis of eye diseases. Their contribution has transformed how conditions like glaucoma and myopia are detected, studied, and even prevented.

More than 2,000 twins generously participated in detailed eye examinations led by Professor David Mackey and his team. The first scientific publication from this work appeared in 2009, but the value of these data has far outlived that initial study.

By combining the twins’ information with international datasets through meta-analysis, researchers have assembled massive sample sizes—essential for uncovering the subtle and complex genetic influences behind common eye conditions.

Breakthroughs in Glaucoma

Thanks to these large-scale efforts, scientists have identified over 300 genes involved in glaucoma, one of the world’s leading causes of irreversible blindness. These discoveries have paved the way for genetic tests now available in Australia, enabling earlier diagnosis and treatment—crucial steps for preserving sight.

Progress in Myopia

The impact of Australian twins has been equally significant in the fight against myopia (short-sightedness). Their participation helped researchers identify over 400 genes linked to this rapidly growing condition.

Understanding these genetic factors offers real-world benefits: improved prediction may help clinicians identify children at highest risk and guide personalised early interventions—such as increasing outdoor time, using myopia-control contact lenses, or prescribing low-dose atropine eye drops—all proven strategies to slow progression.

Looking Ahead

In the future, this knowledge could guide personalised early interventions, such as increasing time outdoors, using myopia-control contact lenses, or prescribing low-dose atropine eye drops, all proven strategies for slowing the progression of myopia in children. With rates of myopia rising globally, genetically informed prevention offers an exciting pathway to protect the eye health of future generations.

The contributions of Australian twins continue to ripple through the scientific community, enabling discoveries that benefit millions. Their involvement demonstrates how volunteer participation in research—even from many years ago—can have a long-lasting and powerful impact on public health.