Chronic, non-communicable diseases present a major barrier to living a long and healthy life. In many cases, early diagnosis can facilitate prevention, monitoring, and treatment efforts, improving patient outcomes. There is therefore a critical need to make screening techniques as accessible, unintimidating, and cost-effective as possible. The association between ocular biomarkers and systemic health and disease (oculomics) presents an attractive opportunity for detection of systemic diseases, as ophthalmic techniques are often relatively low-cost, fast, and non-invasive. In this review, we highlight the key associations between structural biomarkers in the eye and the four globally leading causes of morbidity and mortality: cardiovascular disease, cancer, neurodegenerative disease, and metabolic disease. We observe that neurodegenerative disease is a particularly promising target for oculomics, with biomarkers detected in multiple ocular structures. Cardiovascular disease biomarkers are present in the choroid, retinal vasculature, and retinal nerve fiber layer, and metabolic disease biomarkers are present in the eyelid, tear fluid, lens, and retinal vasculature. In contrast, only the tear fluid emerged as a promising ocular target for the detection of cancer. The retina is a rich source of oculomics data, the analysis of which has been enhanced by artificial intelligence-based tools. Although not all biomarkers are disease-specific, limiting their current diagnostic utility, future oculomics research will likely benefit from combining data from various structures to improve specificity, as well as active design, development, and optimization of instruments that target specific disease signatures, thus facilitating differential diagnoses.
Keywords: Biomarkers; Cancer; Cardiovascular; Chronic; Disease; Imaging; Metabolic; Neurodegenerative; Non-communicable; Ocular; Oculomics; Ophthalmic; Systemic.
Long-term diseases can stop people living long and healthy lives. In many cases, early diagnosis can help to prevent, monitor, and treat disease, which can improve patients’ health. In order to diagnose disease, we need tools that are easy for patients to access, painless, and low-cost. The eye may provide the solution. In this review, we discuss the link between changes in the eye and four types of long-term disease that, together, kill most of the population: (1) Cardiovascular disease (affecting the heart and/or blood). (2) Cancer (abnormal growth of cells). (3) Neurodegenerative disease (affecting the brain and/or nervous system). (4) Metabolic disease (problems storing, accessing, and using the body’s fuel). We show that neurodegenerative disease leaves tell-tale signs in lots of different parts of the eye. Signs of cardiovascular and metabolic disease biomarkers are mostly found in the back of the eye, and signs of cancer can be found in the tear fluid. Although signs of disease can be seen in the eye, not all of them will tell us what the disease is. We believe that future research will help us to understand more about long-term disease and how to detect it if we combine information from different structures within the eye and develop new tools to target these specific structures.
© 2024. The Author(s).