EURETINA 2024: Genotype-phenotype correlations in a cohort of patients with genetically determined retinitis pigmentosa

On the first day of the European Society of Retina Specialists (EURETINA) Congress, attendees gathered in the main auditorium to start the conference with a celebratory spirit. The society's leadership presented awards for the winning videos, free papers and e-posters in competition. Registered attendees may access all of the winning presentations through the EURETINA On Demand platform.

Stefano Mercuri, MD, is the first author of the award-winning e-poster presentation. He is an ophthalmology resident at Università degli Studi di Firenze in Florence, Italy. The poster, which won the August Deutman Award, is titled "Genotype-phenotype correlations in a cohort of genetically determined Retinitis Pigmentosa (RP) Italian patients with Rho gene mutations."

Following the award ceremony, Dr Mercuri spoke with Ophthalmology Times Europe about the research, which spans a broad community of patients with RP across Italy.

Editor's note: The below transcript has been lightly edited for clarity.

Stefano Mercuri, MD: Good morning and thank you for the kind interview. I'm Dr Mercuri Stefano, from University of Florence. We brought this project because in our hospital, we have a strong service for hereditary retinal dystrophies. And so this project was a part of a bigger project involving many hospitals in Italy. Indeed, the project was funded by the Italian Ministry of Health Tuscany and Sicily, which supported the genotyping-phenotyping correlation in retinitis pigmentosa.

I brought this study, focusing on retina pigmentosa associated with RHO gene mutations. It's a specific mutation, actually one of the most common in RP, which has a high phenotypic variability, giving in a lot of insights in the meaning of the larger project, which involves many of us in the ward at our department. And I take this chance to thank Dr [Andrea] Sodi, which is my mentor, and Professor [Fabrizio] Giansanti and Professor [Gianni Virgili], which are the directors of my department. In recent years, many gene therapies have arisen. Hopefully there will be some technological advances that will [give] us better understanding of the diseases, and then also give us solutions for these diseases. The road is long, but we will do it step by step.

This is the biggest retina congress in Europe, so it's a great chance to hear from the leaders in the field, so I can just learn from it. And every talk was meaningful to me. It's just the best place to be at for the quality of the presentations, and it's nice to hear and meet again people that I met during my path.