Research Group

Retinal and Macular Degeneration Clinical Research Group

Our research bridges early-stage therapeutic development with large-scale international clinical collaboration, enabling laboratory discoveries to be translated efficiently into clinical applications.

The Retinal and Macular Degeneration Clinical Research Group focuses on translational and clinical research in retinal disease. Its goal is to generate the evidence base required for the development and clinical implementation of novel therapeutic strategies.

Key projects and focus areas

A key milestone is the EyeConic Study, a global multicenter ocular imaging initiative conducted in collaboration with more than 15 international clinical sites. EyeConic systematically characterises residual retinal structure in patients with inherited retinal degenerations (IRDs). Using AI-based image analysis, EyeConic demonstrated that a significant proportion of patients with generalised IRDs retain preserved foveal tissue, even in advanced disease stages. This finding closes a major knowledge gap and provides strong evidence supporting the feasibility of photoreceptor-targeted vision restoration therapies.

Disease-specific:

  • EyeConic-Pediatric: Assessing foveal tissue preservation in blind pediatric patients with IRD.
  • EyeConic-GA: Investigating residual retinal structure in Geographic Atrophy (GA) due to age-related macular degeneration to evaluate the potential for vision restoration therapies.
  • Stargardt disease: Focusing on early-stage Stargardt disease, mutation-specific progression, and biomarkers for clinical trial stratification. We envision enrolling patients into the first-in-human clinical trial assessing base-editing-mediated gene correction.

The EyeConic framework has established a robust methodological basis for large-scale multicenter imaging research, ensuring that quantitative data are reproducible and comparable across devices, sites, and patient populations.

Beyond EyeConic, our broader vision is to establish an integrated imaging and clinical research framework that connects multimodal imaging and advanced AI-based image analysis with clinical, functional, and genetic datasets. We aim to accelerate the development of new therapeutic options for patients and reduce the risk of clinical trial failure arising from patient-specific factors. Our work includes identifying biomarkers, creating disease atlases and providing predictive models of disease progression.

Our group operates within an international collaborative network, partnering with leading institutions across Europe, North America, Asia and leveraging IOB’s interdisciplinary environment to connect fundamental discovery with clinical translation.

We welcome new clinical collaborators, researchers and fellows interested in retinal imaging, AI-driven analysis, or vision restoration therapies.

For more information or to explore collaboration opportunities, contact us at: clinical.retina@iob.ch

Further links

Clinical Trial Registrations

EyeConic: Qualification for Cone-Optogenetics, NCT05294978 (EyeConic)

Group Leader

Lucas Janeschitz-Kriegl

Head of Retinal and Macular Degeneration Clinical Research Group

Publications

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

High-efficiency base editing in the retina in primates and human tissues

Nature Medicine, 2025
Alissa Muller, Jack Sullivan, Wibke Schwarzer, Mantian Wang, Cindy Park-Windhol, Pascal W Hasler, Lucas Janeschitz-Kriegl, Mert Duman, Beryll Klingler, Jane Matsell, Simon Manuel Hostettler, Patricia Galliker, Yanyan Hou, Pierre Balmer, Tamás Virág, Luis Alberto Barrera, Lauren Young, Quan Xu, Dániel Péter Magda, Ferenc Kilin, Arogya Khadka, Pierre-Henri Moreau, Lyne Fellmann, Thierry Azoulay, Mathieu Quinodoz, Duygu Karademir, Juna Leppert, Alex Fratzl, Georg Kosche, Ruchi Sharma, Jair Montford, Marco Cattaneo, Mikaël Croyal, Therese Cronin, Simone Picelli, Alice Grison, Cameron S Cowan, Ákos Kusnyerik, Philipp Anders, Magdalena Renner, Zoltán Zsolt Nagy, Arnold Szabó, Kapil Bharti, Carlo Rivolta, Hendrik P N Scholl, David Bryson, Giuseppe Ciaramella, Botond Roska, Bence György

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

Am J Hum Genet., 2024
Mathieu Quinodoz, Karolina Kaminska, Francesca Cancellieri, Ji Hoon Han, Virginie G Peter, Elifnaz Celik, Lucas Janeschitz-Kriegl, Nils Schärer, Daniela Hauenstein, Bence György, Giacomo Calzetti, Vincent Hahaut, Sónia Custódio, Ana Cristina Sousa, Yuko Wada, Yusuke Murakami, Almudena Avila Fernández, Cristina Rodilla Hernández, Pablo Minguez, Carmen Ayuso, Koji M Nishiguchi, Cristina Santos, Luisa Coutinho Santos, Viet H Tran, Veronika Vaclavik, Hendrik P N Scholl, Carlo Rivolta