Oculomics: Current Concepts and Evidence

Zhuoting Zhu
Yueye Wang
Ziyi Qi
Wenyi Hu
Xiayin Zhang
Siegfried Wagner
Yujie Wang
An Ran Ran
Joshua Ong
Ethan Waisberg
Mouayad Masalkhi
Alex Suh
Yih Chung Tham
Carol Y. Cheung
Xiaohong Yang
Honghua Yu
Zongyuan Ge
Wei Wang
Bin Sheng
Andrew G. Lee
Alastair Denniston
Peter van Wijngaarden
Pearse Keane
Ching-Yu Cheng
Mingguang He
Tien Yin Wong
Progress in Retinal and Eye Research (2025)

Abstract

The eye provides novel insights into general health, as well as pathogenesis and development of systemic diseases. In the past decade, growing evidence has demonstrated that the eye's structure and function mirror multiple systemic health conditions, especially in cardiovascular diseases, neurodegenerative disorders, and kidney impairments. This has given rise to the field of oculomics- the application of ophthalmic biomarkers to understand mechanisms, detect and predict disease. The development of this field has been accelerated by three major advances: 1) the availability and widespread clinical adoption of high-resolution and non-invasive ophthalmic imaging (“hardware”); 2) the availability of large studies to interrogate associations (“big data”); 3) the development of novel analytical methods, including artificial intelligence (AI) (“software”). Oculomics offers an opportunity to enhance our understanding of the interplay between the eye and the body, while supporting development of innovative diagnostic, prognostic, and therapeutic tools. These advances have been further accelerated by developments in AI, coupled with large-scale linkage datasets linking ocular imaging data with systemic health data. Oculomics also enables the detection, screening, diagnosis, and monitoring of many systemic health conditions. Furthermore, oculomics with AI allows prediction of the risk of systemic diseases, enabling risk stratification, opening up new avenues for prevention or individualized risk prediction and prevention, facilitating personalized medicine. In this review, we summarise current concepts and evidence in the field of oculomics, highlighting the progress that has been made, remaining challenges, and the opportunities for future research.