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Approved research

Identifying genetic variants that influence retinal development and pigmentation

Principal Investigator: Dr Mervyn Thomas
Approved Research ID: 52168
Approval date: December 24th 2019

Lay summary

Retinal development is a complex process involving the interplay of genetic variants and environmental factors. The genetic mechanisms and variants that influence retinal development are not fully understood. Evidence from disorders such as albinism (a disorder where there is lack of pigmentation) suggest that normal pigmentation is important for retinal development. However there is debate about whether common variants within genes involved in pigmentation can have an effect on retinal development and thus an additive effect in disease states too. We aim to identify the disease modifying common variants in pigmentation and retinal development. Identification of disease modifying variants will have an important role is diagnosis, screening and prognosis. It will also help with developing diagnostic guidelines for diseases such as albinism. Improving our understanding of genetic contributors for retinal development and thus vision could have significant impact on health and delivery of healthcare. We will obtain genotypes and retinal development data (from retinal scans, photos and examinations) from the UK Biobank data. We will explore this data for associations between genotype, pigmentation and retinal development. We anticipate this will be a rolling 3-year project as new genes involved with pigmentation and retinal development are identified. This will help establish an international consensus guidelines for the diagnosis and management of albinism