A dynamic partnership between NIHR BRC: Moorfields and Leicester, has delivered three published papers including a landmark genetic study that shone new light on how the eye develops its sharpest vision. The University of Leicester also hosted the UK Eye Genetics Group national conference, which celebrated this partnership’s significant standing in the UK’s inherited eye disease field.
Inherited retinal disorders are the second most common cause of severe visual impairment in childhood and the leading cause in the working-age population. Although they are predominantly untreatable, research in this field is deepening our understanding and bringing us closer to a future with effective treatments.
The partnership began with Dr Mervyn Thomas, Clinical Associate Professor, Honorary Consultant Ophthalmologist and Clinical Lead (Ulverscroft Eye Unit) at The University of Leicester attending Moorfields clinics to gain experience and familiarity with the inherited retinal disease cohort. Omar Mahroo, a Professor of Retinal Neuroscience at UCL and retinal specialist, commented that Moorfields has also been fortunate to leverage Leicester’s specialist expertise relating to nystagmus and foveal development.
Key publications from the collaboration
2026
August: Genetic testing helps predict who will develop inherited nystagmus
In Ophthalmology Science, researchers found that women carrying certain changes in the FRMD7 gene are more likely to develop infantile nystagmus than those with other types of genetic changes. The findings could improve genetic counselling by providing families with a clearer understanding of their risk of developing the condition.
May: Genetic testing uncovers causes of albinism and nystagmus in children
In Nature’s NPJ Genomic Medicine, whole-genome sequencing uncovered diverse genetic causes and observable features of albinism and nystagmus. Early genetic testing could help identify inherited causes of abnormal eye movements and distinguish them from other non-inherited conditions. This advanced DNA screening could lead to faster diagnosis of complex eye conditions and pave the way to more personalised care.
2025
September: Landmark genetic study sheds new light on how the eye develops its sharpest vision
In ARVO Journal Investigative Ophthalmology & Visual Science (IOVS), a study combining artificial intelligence and genetics has allowed researchers to study the part of the eye that gives us sharp central vision in amazing detail for the first time. It is the first ever genome-wide study of human foveal development. The fovea isthe tiny pit at the back of the eye that gives us sharp central vision for reading, recognising faces, and driving.
Dr Mervyn Thomas, senior author of the study
June: UK Eye Genetics Group national conference hosted by the University of Leicester
On Monday 22nd June, 90 delegates from across the UK and around the world gathered in Leicester for one of the leading meetings in the UK’s inherited eye disease field. A key focus was the 2025 landmark genetic study of human foveal development.
Mark Hughes, a student in Prof. Omar Mahroo’s laboratory, presented his research on the most common RHO gene mutations causing inherited retinitis pigmentosa in patients and explored how these mutations relate to disease symptoms and severity.
Mark Hughes was awarded the UK Eye Genetics Group’s best oral presentation.
Dr. Shane (Siyin) Liu, an NIHR Clinical Lecturer at the UCL Institute of Ophthalmology and Moorfields Eye Hospital, presented at the meeting. He showcased how genetic testing could help predict the progression of Fuchs endothelial corneal dystrophy, a common age-related cause of visual loss.
Prof. Omar Mahroo: foveal collaborator
Mark Hughes with best oral presentation certificate
We look forward to the continued success of this NIHR-supported collaboration and celebrate the impact it has already had on the inherited eye disease field. Although many inherited eye conditions remain untreatable, advances in genetic testing are transforming diagnosis and opening new avenues for future therapies.