Research Questions:
Which biomarkers or clinical features are significantly associated with the risk of retinal diseases?
Which rare variants are significantly associated with the rapid progression of retinal diseases?
How can genomic, imaging, clinical, and environmental data be integrated to construct a multi-modal predictive model for retinal diseases?
Aims:
To develop a new polygenic risk score describing genetic risk in patients with fundus diseases
To investigate clinical and environmental factors and potential biomarkers associated with retinal diseases.
To develop a risk prediction model for fundus diseases based on genetic, imaging, clinical, and environmental factors.
Background and scientific rationale of the research:
Fundus diseases are one of the leading causes of vision loss and blindness worldwide. Early screening and risk stratification are critical for preventing disease progression. As one of the largest population-based cohort databases globally, UKB offers an unprecedented opportunity to systematically elucidate the multidimensional pathogenic mechanisms underlying retinal diseases. We will investigate and evaluate additional risk factors potentially associated with retinal diseases, including environmental, biological, genetic variables, and clinical characteristics. Concurrently, we will develop tools for quantifying the risk of retinal diseases, ultimately establishing a multimodal predictive system encompassing molecular, imaging, and clinical features.
This study responds to the increasingly urgent need for vision impairment prevention and control in the global public health sector and will also provide a scientific basis for public health strategies for eye health. Our findings may improve risk stratification and lead to the development of early screening tools that are both sensitive and robust.