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Subspecialties Glaucoma, Health Economics and Policy, Imaging & Diagnostics

Banking on Data

UK Biobank (UKBB) is a major national health platform in the UK (and a registered charity in its own right), which aims to improve the prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses. The original scope of the study was broadened from an initial focus on cardiovascular disease, stroke, cancer and diabetes to include more detailed examination of participants, including assessment of physical fitness, brain and cardiac imaging, as well as an examination of eyes and vision. Through their NIHR Biomedical Research Centre, Moorfields Eye Hospital and the UCL Institute of Ophthalmology fought hard to include the eye and vision module, and then formed a UK wide consortium develop and analyze data.

Eye data available within UKBB include visual acuity, auto-refraction and intraocular pressure data on more than 117,000 people. In addition, simultaneous digital fundus photography (single-field 45° centered on the macula), as well as macular optical coherence tomography was carried out on 67,321 people. During the data collection phase of UKBB, the Image Reading Centre at Moorfields provided a rapid turnaround quality assurance service for the macular photos and OCT images, finding them to be of high quality, compared with other studies using similar methodology. Links to other data available in UKBB, together with the longitudinal design of the study, make this possibly the most valuable research resource for ophthalmology in the UK (1).

Eye and vision researchers around the UK have formed a consortium, which meets in February each year for a day-long program of planning, discussion, and debate at the Wellcome Trust Conference Centre in London. And it has led to the formation of groups working on various aspects of data, including visual acuity, refractive error, intraocular pressure, retinal vascular characteristics, genetics and outcomes adjudication and monitoring.

Activity within the Consortium can be grouped according to the type of data or image that forms the primary focus of the research effort. Groups with shared interests have joined forces to use different data sources, some of which relate solely to eye and vision data, while others (such as genetics and record linkage) draw on resources with broader application. Four eye examinations were conducted in the latter stages of the UK Biobank baseline examination, and have been continued in the follow-ups (see Box: UK Biobank baseline eye examinations).

A Quick Research Tour

The following study groups have been formed by eye and vision researchers in the UK:

Nutrition and Eye: to investigate the association between diet and AMD, diabetic retinopathy and glaucoma, explore how these relationships relate or are modified by systemic factors identified by the blood biochemistry results, such as markers of inflammation or redox balance, and explore the existence of gene-environment interactions between dietary and lifestyle factors in AMD, diabetic retinopathy and glaucoma.

Cataract: to identify novel risk factors and examine diseases associated with cataracts, and to find common pathways and potential new preventive strategies, comparing the full dataset of 500,000 people and their environmental, lifestyle, biometric and genetic characteristics of people following cataract surgery, with those who haven’t been through it.

Crowdsourcing: to use large numbers of people to analyze over 100,000 clinical eye images. The group developed an interactive online training module and webpage, and plans to promote public participation to assist in the classification of ophthalmic medical images.

Genetics: to determine how an individual's genetic make-up, lifestyle and environment all interact to increase or decrease risk of disease.

Giant Cell Arteritis (GCA) and Polymyalgia Rheumatica (PMR): to highlight potential associations of GCA and PMR that could stimulate further research into pathogenesis. This group intends to perform a cross-sectional study to investigate associations of GCA and PMR within UKBB. Additionally, it aims to determine whether ocular imaging, including OCT and retinal vascular caliber measurements, reveals particular features of GCA/PMR.

Intraocular pressure: to explore the factors that determine eye pressure, in order to help identify new interventions that can be used to control glaucoma in the UK and around the world (2).

Refractive Error: to investigate the complex relationships between myopia and visual function, and a diverse range of risk factors. The group aims to identify risk factors that can be modified, or biological processes and pathways that would merit further research (3).

Retina and Cognition: to explore the relationship between retinal anatomy, cognitive function, and other measures of neurological decline using OCT images included in UKBB. This might offer new methods of detecting and monitoring neurodegenerative conditions such as Alzheimer’s disease, and potentially new insights into its etiology (4).

Retinal Detachment: this group has demonstrated that several gene pathways influence the risk of developing retinal detachment. Using single nucleotide polymorphisms (markers of genetic variation), the aim is to extend the assembled genetic database and perform a larger, case-control genome-wide association study on retinal detachment cases and population-matched controls. This research has the potential to identify new pathways in the disease process, and new therapeutic targets aimed at the prevention or treatment of this condition.

Retinal Image Grading: to study AMD, diabetic retinopathy (DR) and glaucoma in order to classify all retinal photographs in the UKBB dataset as normal, showing signs of disease or being un-gradable, assess the frequency and characteristics of DR in known diabetics, assess the frequency and describe the characteristics of AMD, measure the cup to disc ratio as a marker for glaucoma, to record the presence of any congenital or acquired abnormalities of retina or optic nerve, and to explore how AMD, DR and glaucoma characteristics are associated with socio-economic factors, lifestyle and environmental exposures of participants.

Retinal Vascular Morphometry: two groups within the consortium are actively developing new methods of examining the characteristics of retinal blood vessels to assess risk of disease.

Optical Coherence Tomography: in collaboration with the manufacturers of the OCT device used in UKBB (Topcon) this group was able to perform rapid, fully-automated retinal sublayer analysis on the OCT images.

Outcomes Adjudication and Record Linkage: to develop methods for the long-term follow up of the cohort, through centrally managed processes for ascertainment, confirmation, and sub-classification of both prevalent and incident outcomes of interest.

Visual Acuity: to learn more about the distribution of visual function and the frequency of different levels of sight impairment, to identify the biological, social and lifestyle factors that might influence the development of visual dysfunction, and to find out more about the general and mental health, social circumstances and ethnic diversity of adults with impaired sight in the UK today.

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  1. SYL Chua et al., “Cohort profile: design and methods in the eye and vision consortium of UK Biobank”, BMJ Open, 9 (2019). PMID: 30796124.
  2. AP Khawaja et al., “Genome-wide analyses identify 68 new loci associated with intraocular pressure and improve risk prediction for primary open-angle glaucoma”, Nat Genet, 50, 778 (2018). PMID: 29785010.
  3. MS Tedja et al., “Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error”, Nat Genet, 50, 834 (2018). PMID: 29808027.
  4. F Ko et al., “Association of retinal nerve fiber layer thinning with current or future cognitive decline: a study using optical coherence tomography”, JAMA Neurol, 75, 1198 (2018). PMID: 29946685.

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About the Author
Paul Foster

Professor of Ophthalmic Epidemiology and Glaucoma Studies, UCL Institute of Ophthalmology and Honorary Consultant, Moorfields Eye Hospital.

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