University hosts prestigious ophthalmic genetics conference

Ophthalmic clinicians, geneticists and researchers gathered at the University of Leicester this week for the UK Eye Genetics Group (UKEGG) national conference, one of the most prominent meetings in the field of inherited eye disease in UK. 

Drawing together around 90 delegates from across the UK and internationally, the conference provided a forum for sharing new research, discussing complex cases and fostering collaboration across the field. Attendees travelled from across the UK as well as Rome, Basel, Cairo, Zurich, and Canada, reflecting the global reach of the UK’s ocular genetics community.

This year’s conference was chaired by Dr Mervyn Thomas, Clinical Associate Professor at the University of Leicester, Honorary Consultant Ophthalmologist at University Hospitals of Leicester NHS Trust, and Clinical Lead of the Ulverscroft Eye Unit. The keynote address was delivered by Professor Carlo Rivolta, Professor of Ophthalmic Genetics at the Medical Faculty of the University of Basel, and Professor of Medical Genetics at the University of Leicester.

Among the topics highlighted throughout the one-day event were the Leicester foveal hypoplasia grading system developed by Dr Thomas and colleagues and now used worldwide.

This pioneering system utilises optical coherence tomography (OCT) and helps to determine the severity of foveal hypoplasia, the tiny pit in the retina responsible for sharp, detailed central vision, which can be genetically impaired.

The event also highlighted Leicester’s roles as a lead research institution to conduct the first genome-wide association study (GWAS) to analyse foveal pit characteristics using data from 61,269 UK Biobank participants.

The programme featured a broad range of presentations spanning clinical genetics, novel therapeutics, patient advocacy and artificial intelligence. 

Dr Gail Maconachie (NIHR Fellow, Sheffield) spoke on refining diagnostic pathways for infantile nystagmus, while Dr Zhanhan Tu presented novel approaches to imaging in retinoblastoma and Dr Siyin Liu (NIHR Lecturer, UCL) addressed the genetic mechanisms underlying Fuchs' endothelial corneal dystrophy. 

Callum Hunt (University of Leicester) presented state-of-the-art findings on polygenic and Mendelian disease architecture at the fovea. The keynote address, delivered by Professor Carlo Rivolta, provided a sweeping overview of the field's trajectory under the title 'Molecular genetics of inherited retinal diseases: past, present, and future'.

Professor Julian Barwell (Professor of Cancer Genetics, Leicester) and genetic counsellor Maria Echevarria explored the ethical dilemmas arising in clinical genetics practice, while Professor Pradeep Vasudevan (Professor of Clinical Genetics, Leicester) examined the interface between systemic disease and ophthalmic manifestations. 

Dr Thomas said: “It was an honour to host this prestigious event and bring together specialists from across the UK and further afield to discuss how real-world research is advancing the field and making a difference to patients. 

“We are proud to be leading cutting-edge discoveries here in Leicester. Our Ocular Genomics Clinic at the Leicester Royal Infirmary is part of that commitment. It is one of a small number of services in the UK that brings together clinical genetics and ophthalmology within a joint NHS and University Service, providing comprehensive care for both adults and children with inherited eye conditions. We also lead the East Genomics Medicine Service Alliance's Communities of Practice in ocular genetics, supporting clinicians across the East Midlands and East of England."