Combining the words “ocular” and “omics” (i.e., the study of biological systems), oculomics was a term first coined in a 2020 Translational Vision Science & Technology paper, “Insights into Systemic Disease through Retinal Imaging-Based Oculomics,” written by Pearse Keane and colleagues from the NIHR Biomedical Research Center at Moorfields Eye Hospital and UCL Institute of Ophthalmology, London.
The idea, the authors stated, was to use the non-invasive and rapid high-resolution imaging modalities developed over the last decade to identify ocular biomarkers of systemic disease. In theory, this would allow clinicians to better understand these systemic disease mechanisms, detect the diseases themselves more effectively, and even predict them earlier than with other more traditional modalities.
The field is now gaining increased momentum, thanks in part to three major advances in the ophthalmic space:
The development and widespread clinical adoption of high-res and non-invasive imagining systems.
The recent rapid expansion of AI and its analytical capabilities (e.g. the introduction of ChatGPT 4.0 in 2024).
The availability of “big data” studies that can be used to interrogate associations (e.g. AAO’s IRIS Registry, the UK Biobank, and TriNet X).
Since the term oculomics was coined, there have been over 400 papers published on and around the topic, with a growing body of evidence suggesting that retinal imaging can indeed be used to detect some of the early signs of some of the most globally prevalent systemic diseases. This includes cardiovascular diseases (such as hypertension and stroke risk), neurodegenerative diseases (such as Alzheimer’s, Parkinson’s, and Multiple Sclerosis), and chronic kidney disease.
As noted, advancements in AI and big data are helping to galvanize research in the area. A new med-tech company committed to furthering these advancements is Cascader, a strategic partnership between Moorfields Eye Hospital, UCL Institute of Ophthalmology, and Topcon Healthcare, co-founded by Keane, Peter Thomas, and Ege Ilicak. In a recent conversation with The Ophthalmologist, Keane discussed how oculomics is helping to power Cascader’s objectives: “The ultimate goal would be to have an AI system that could assess a routinely collected retinal image to predict a person’s risk of heart attack or stroke, or to make an early diagnosis of metabolic diseases and other systemic conditions.” Such a development, Keane added, would be “a world-changing thing.”
Writing in The Ophthalmologist last year on how the “ecosystem” of AI might be best applied to healthcare, Keane noted “parallels between where we are now in healthcare AI and the dawn of the electrical age… when the switch was flipped at Thomas Edison’s power station in lower Manhattan, New York. [But] before it could work… there had to be a network of innovations to make the lightbulb a viable, widespread alternative to candlelight.”
Perhaps oculomics, also the culmination of a network of innovations, could similarly become the cutting-edge lightbulb to the “candlelight” of more traditional systemic disease diagnostic techniques…
