The eye as a window to systemic disease

Researchers have explored the link between changes in retinal thickness and cardiac, pulmonary, metabolic and neuropsychiatric diseases

A woman looks ahead with her chin resting on a white chin rest while having her eyes scanned. A ray of green light shines vertically across her pupil.

US and German researchers have highlighted how changes in retinal thickness can provide insight into the risk of developing systemic disease.

A new study, which was published in Science Translational Medicine, used a combination of big data, genetics and retinal imaging to estimate an individual’s risk of developing ocular, cardiac, pulmonary, metabolic, and neuropsychiatric diseases.

The research involved analysing optical coherence tomography (OCT), genotyping and baseline health data from 44,823 participants in the UK Biobank.

Initial measurements were taken in 2010, with participants monitored for disease development for an average of 10 years.

The researchers identified 259 genetic loci that were associated with retinal thickness.

They found that multiple systemic health conditions, including poor cardiac, metabolic, pulmonary, and renal function, were linked to thinning of the photoreceptor segment of the retina. Further research is needed to determine causality.

The researchers highlighted that, with further validation, OCT imaging might be used to derive retinal markers for systemic and ocular health.

“This could potentially help with disease prevention – if we know from someone’s retinal image that they are at high risk of developing glaucoma or cardiovascular disease in the future, we could refer them for follow-up screening or preventative treatment,” first author, Dr Seyedeh Maryam Zekavat, highlighted.

Zekavat is a Harvard ophthalmology resident at Massachusetts Eye and Ear and postdoctoral scholar at Broad Institute of MIT and Harvard.