Research Group

Ophthalmic Genetics Group

The Ophthalmic Genetics group discovers genetic causes of inherited eye diseases, with focus on retinal ciliopathies—the most prevalent cause of hereditary blindness in Europe.

The ophthalmic genetics group pursues an interdisciplinary research program. The group focusses on discovering the genetic cause of monogenic and genetically complex ophthalmic disease. The research team is particularly interested in defining the mutational landscape of retinal ciliopathies, which they believe to be the most prevalent cause for hereditary blindness in Switzerland and, in general, in Europe.

Their research includes exploration of modifier genes and their effects on therapies, the development of mathematical theories of visual function, and the creation of computational tools for elucidating the genetic bases of vision loss.

The Ophthalmic genetics group comprises considerable expertise in genetic investigation, particularly in high-throughput techniques such as parallel genotyping and Next-Generation Sequencing, as well as in disease gene identification, computational and in-silico methods.

Carlo Rivolta
Group Leader

Carlo Rivolta

Head of Ophthalmic Genetics Group

Publications

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort

NPJ Genom Med., 2025
Mukhtar Ullah, Atta Ur Rehman, Mathieu Quinodoz, Abdur Rashid, Francesca Cancellieri, Asad Munir, Karolina Kaminska, Afia Iqbal, Samra Javed, Muhammad Dawood, Hafiz Muhammad Azhar Baig, Shamim Saleha, Shagufta Naz, Humera Kausar, Ali Muhammad Waryah, Andrea Superti-Furga, Muhammad Ansar, Carlo Rivolta 

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy

Am J Hum Genet., 2025
Karolina Kaminska, Francesca Cancellieri, Mathieu Quinodoz, Abigail R Moye, Miriam Bauwens, Siying Lin, Lucas Janeschitz-Kriegl, Tamar Hayman, Pilar Barberán-Martínez, Regina Schlaeger, Filip Van den Broeck, Almudena Ávila Fernández, Lidia Fernández-Caballero, Irene Perea-Romero, Gema García-García, David Salom, Pascale Mazzola, Theresia Zuleger, Karin Poths, Tobias B Haack, Julie Jacob, Sascha Vermeer, Frédérique Terbeek, Nicolas Feltgen, Alexandre P Moulin, Louisa Koutroumanou, George Papadakis, Andrew C Browning, Savita Madhusudhan, Lotta Gränse, Eyal Banin, Ana Berta Sousa, Luisa Coutinho Santos, Laura Kuehlewein, Pietro De Angeli, Bart P Leroy, Omar A Mahroo, Fay Sedgwick, James Eden, Maximilian Pfau, Sten Andréasson, Hendrik P N Scholl, Carmen Ayuso, José M Millán, Dror Sharon, Miltiadis K Tsilimbaris, Veronika Vaclavik, Hoai V Tran, Tamar Ben-Yosef, Elfride De Baere, Andrew R Webster, Gavin Arno, Panagiotis I Sergouniotis, Susanne Kohl, Cristina Santos, Carlo Rivolta