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DOI 10.1101/2025.08.04.25332962

Медицинская библиотека · medRxiv : the preprint server for health sciences · 2025

Ophthalmic imaging as a measure of cardiovascular and neurological health: a multi-omic analysis of deep-learning derived phenotypes.

Julian Thomas H, Dou Haoran, Duan Jinming, Huang Jinghan, Yoo Esther, Green David J, Strange Andrew, Alhathli Elham, UK Biobank Eye and Vision Consortium, Sperrin Matthew, Keane Pearse A, Chew Emily Y, Keavney Bernard, Fitzgerald Tomas W, Cooper-Knock Johnathan, Birney Ewan, Frangi Alejandro F, Sergouniotis Panagiotis I

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Аннотация

The eye is a recognised source of biomarkers for cardiovascular and neurodegenerative disease risk. Here, we characterise the breadth of these associations and identify biological axes that may mediate them. Using UK Biobank data, we developed a multi-omic analysis pipeline integrating physiological, radiomic, metabolomic, and genomic information. We trained adversarial autoencoders (Ret-AAE) to represent optical coherence tomography (OCT) images and colour fundus photographs as 256-dimensional embeddings. Ret-AAE derived embeddings were associated with a range of cardiovascular and neurodegenerative diseases, including ischaemic heart disease, cerebrovascular disease, Parkinson's disease, and dementia. Examining associations across diverse omics datasets, we provide evidence linking ophthalmic imaging features to neurological and cardiovascular anatomy and function, lipid metabolism, and gene sets associated with neurodegenerative pathology. Collectively, our findings demonstrate that ophthalmic features reflect complex, multisystem biological processes, and reinforce the role of the eye as a composite indicator of systemic health.

Для цитирования: Julian Thomas H, Dou Haoran, Duan Jinming, Huang Jinghan, Yoo Esther, Green David J, Strange Andrew, Alhathli Elham, UK Biobank Eye and Vision Consortium, Sperrin Matthew, Keane Pearse A, Chew Emily Y, Keavney Bernard, Fitzgerald Tomas W, Cooper-Knock Johnathan, Birney Ewan, Frangi Alejandro F, Sergouniotis Panagiotis I. Ophthalmic imaging as a measure of cardiovascular and neurological health: a multi-omic analysis of deep-learning derived phenotypes.. medRxiv : the preprint server for health sciences. 2025. DOI: 10.1101/2025.08.04.25332962.
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