Everything in View: High-Resolution Retinal Maps Help Diagnose Diseases

Researchers have conducted one of the largest eye studies in the world to gain new insights into retinal thickness and determine its potential for the early detection of diseases such as type 2 diabetes, dementia and multiple sclerosis. The WEHI-led study, which analyzed over 50,000 eyes using cutting-edge artificial intelligence technology, created maps of the retina in unprecedented detail to better understand how differences in the retina are associated with various diseases.

Retinal Imaging can Act as a Window into the Brain

The results open up new possibilities for using routine imaging in eye exams as a tool for early detection and treatment of disease, similar to how mammograms are for breast cancer. Innovative AI-powered research has produced the most detailed maps of the retina ever produced. WEHI researchers have used these maps to link thinning of the retina to a range of diseases and identify new genetic factors that affect retinal thickness. The findings could pave the way for routine imaging in ophthalmology as a tool for early disease detection.

The retina is part of the central nervous system, which also includes the brain and spinal cord. Many diseases are associated with a degeneration or disruption of this important system, including neurodegenerative diseases such as dementia and metabolic disorders such as diabetes. Neurological diseases alone are a leading cause of disability and disease worldwide. Over 3 billion people, or 43% of the world’s population, live with a brain-related condition. Senior investigator Dr. Vicki Jackson of WEHI said the findings broaden the horizon for using retinal imaging as a window into the central nervous system to better treat disease.

“We have shown that retinal imaging can act as a window into the brain by revealing links to neurological disorders such as multiple sclerosis and many other diseases,” said Dr. Jackson, a statistician and geneticist. The fine-grained measurements of the maps reveal crucial new details about the links between retinal thinning and a range of common diseases. The study also identified new genetic factors influencing retinal thickness, which are likely to play a role in how a person’s retina grows and develops.

AI Accelerates the Diagnostic Future

This research highlights the potential of retinal thickness as a diagnostic biomarker that can help detect and track the progression of numerous diseases. Researchers can now pinpoint specific locations in the retina that show important changes in some diseases. The international research team, led by WEHI, applied AI methods to large population data from retinal imaging and compared information about each person’s genetics and health to uncover previously unknown links to disease. The results yielded 50,000 maps of measurements at over 29,000 locations on the retina, identifying retinal thinning associated with 294 genes known to play important roles in disease.

The study’s lead investigator and bioinformatician, Professor Melanie Bahlo AM, said that previous studies had hinted at links between retinal thickness and disease, but her team’s AI-powered discoveries shed deeper light on the complex spatial anatomy of the retina and its role in disease. The research strengthens the growing field of oculomics (using the eye to diagnose health conditions) as an emerging, powerful and non-invasive approach to predicting and diagnosing disease.