Local MP takes part in Manchester-led genetic eye research

Greater Manchester residents are being encouraged to take part in a research study at Manchester Royal Eye Hospital (MREH) that aims to improve the diagnosis and treatment of conditions associated with sight loss.

The FOVEA study (genetic and functional insights into the human fovea) uses genetics and state-of-the-art imaging to understand the unique fovea region at the back of the eye, responsible for detailed vision, including reading and face recognition.

Member of Parliament for Rusholme, Afzal Khan, recently took part in the study which is conducted jointly by MREH – part of Manchester University NHS Foundation Trust (MFT) – and The University of Manchester (UoM), after seeing a study flyer at an event he had attended.

Afzal Khan, MP, said: “It is fantastic that cutting-edge research is being led from Manchester. m delighted to be able to contribute to this important research and encourage Greater Manchester residents to also consider joining the study. Taking part has been very straightforward, and it is great to know the results of this research could help to identify and treat a number of eye conditions, including some which could affect many people in later life.”

The study is being led by Dr Panos Sergouniotis, Honorary Consultant in Ophthalmology and Genetics at MREH and the Manchester Centre for Genomic Medicine, also part of MFT.

 Dr Sergouniotis said: “We anticipate this study will inform new treatments for diseases affecting the fovea including, albinism and age-related macular degeneration (AMD).”

Albinism is a genetic condition that affects the production of melanin, the pigment that colours skin, hair and eyes. It is a lifelong condition, but it does not get worse over time. People with albinism have a reduced amount of melanin, or no melanin at all which can affect their colouring and their eyesight.

AMD affects the middle part of vision and is the leading cause of blindness and visual disability in patients aged over 60 years in Europe and North America. People with a family history of AMD have an increased chances of developing the condition. 

Neda Shahedy, the Senior Clinical Research Practitioner at the Manchester Centre for Genomic Medicine who oversees the study, said: “We believe that the FOVEA study will advance understanding of the relationships between melanin and the structure of the fovea, and the likelihood of a person developing AMD.

 “We hope that this research will transform diagnostic genetic testing for foveal hypoplasia (a rare condition associated with albinism which causes part of the eye to under develop) and that it will lead to the introduction of new therapies to improve vision in people with albinism.”

Participation in the study involves taking images of the back of the eyes using several specialist imaging techniques and providing a blood sample. At least 200 individuals will be recruited, including 150 healthy volunteers, and 50 MFT patients with inherited sight loss. So far 75 healthy volunteers have taken part in the study, which is funded by the Wellcome Trust and the National Institute for Health and Care Research (NIHR) Manchester Biomedical Research Centre (BRC).

Darren Hargreaves, Research Ophthalmic Science Practitioner at MREH, said: “Manchester Royal Eye Hospital is at the forefront of using ground-breaking eye imaging technology, which allows us to actively review microscopic detail in the retina. This is potentially ‘game changing’ for patients with genetic conditions.”

 Dr Sergouniotis, who is also a Senior Lecturer at UoM and researcher in the Next Generation Phenotyping and Diagnostics theme at the NIHR Manchester BRC added: “We are very grateful to Mr Khan and all our study participants who support this Manchester-led research project. Clinical research has shaped every treatment in medicine and no major breakthrough would have been possible without the people who take part in research.”

If you are interested in taking part in the FOVEA study, please email Genetics.Research@mft.nhs.uk. The research will run until March 2026.