Age-related macular degeneration (AMD) is a leading cause of blindness worldwide among older individuals. While drusen are recognised as the hallmark pathology in AMD, reticular pseudodrusen (RPD) have been recognised in recent years as a driver of advanced AMD. They have been associated with higher rates of geographic atrophy and choroidal neovascularisation compared with conventional drusen.
Data is lacking on the aetiology, biological pathways and genetic associations of RPD. Current knowledge relies on studies conducted on patients with conventional drusen. However, RPD can exist in the absence of drusen, also outside of the context of AMD.
This project, supported by the EURETINA Retinal Medicine Clinical Research grant, aims to identify genetic associations specific to RPD, thereby identifying the relevant metabolic pathways. This, we hope, will lead to a specific treatment.
To achieve this aim, we are using the UK Biobank, a large, population-based prospective study, established to allow detailed investigations of the genetic and non-genetic determinants of diseases of middle and old age. We are developing an AI algorithm to detect RPD in the UK Biobank, thereby allowing the identification of study participants with this pathology. This will be followed by genetic analysis and histopathological studies.