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

Early-onset retinopathy in patients with variants in SLC6A6 leading to impaired taurine transport

JAMA Ophthalmol., 2026
Mukhtar Ullah, Atta Ur Rehman, Madhur Shetty, Michael D Allen, Ehsan Ullah, Sabrina G Signorini, Cyril Burin des Roziers, Rosalie M Grijalva, Abdur Rashid, Asad Munir, Alessandra Pia Porretta, Enza Maria Valente, Aime R Agather, Ioannis Dimopoulos, Robert B Hufnagel, Edouard Malandain, Juliette Coursimault, Muhammad Ansar, Stylianos E Antonarakis, Andrea Superti-Furga, Sanaullah Jan, Brian P Brooks, Giacomo Calzetti, Bin Guan, Mathieu Quinodoz, L Keith Henry, Carlo Rivolta 

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