Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
Mathieu Quinodoz, Karolina Kaminska, Ana Belén Iglesias-Romero, Mukhtar Ullah, Marc Folcher, Francesca Cancellieri & Carlo Rivolta
Department of Ophthalmology, University of Basel, Basel, Switzerland
Mathieu Quinodoz, Karolina Kaminska, Ana Belén Iglesias-Romero, Marc Folcher, Georg Ansari, Francesca Cancellieri, Nicolas Feltgen, Maximilian Pfau & Carlo Rivolta
Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK
Mathieu Quinodoz & Carlo Rivolta
Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands
Kim Rodenburg, Suzanne E. de Bruijn, Erica G. M. Boonen, Nick Zomer, Lara K. Holtes, Zelia Corradi, Stefanida Shliaga, Daan M. Panneman, Rebekkah J. Hitti-Malin, Galuh D. N. Astuti, Ronny Derks, Alejandro Garanto, Christian Gilissen, Lonneke Haer-Wigman, Alexander Hoischen, Kornelia Neveling, Michiel Oorsprong, Frans P. M. Cremers & Susanne Roosing
Laboratory of RNA Biology, Institute of Molecular Genetics of the Czech Academy of Sciences, Prague, Czech Republic
Zuzana Cvackova & David Stanek
Department of Otorhinolaryngology, Hearing & Genes, Radboud University Medical Center, Nijmegen, the Netherlands
Suzanne E. de Bruijn
The Rotterdam Eye Hospital, Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands
Erica G. M. Boonen & L. Ingeborgh van den Born
Vitreous Retina Macula Consultants of New York, New York, NY, USA
Jacques Bijon & K. Bailey Freund
Department of Ophthalmology, Rothschild Foundation Hospital, Paris, France
Jacques Bijon
Departments of Ophthalmology, Pathology & Cell Biology, Columbia Stem Cell Initiative, Vagelos College of Physicians and Surgeons Columbia University Irving Medical Center, New York, NY, USA
Stephen H. Tsang
Edward S. Harkness Eye Institute, Jonas Children’s Vision Care (JCVC), Columbia University Irving Medical Center, New York-Presbyterian Hospital, New York, NY, USA
Stephen H. Tsang
Department of Ophthalmology, NYU Grossman School of Medicine, New York, NY, USA
K. Bailey Freund
Division of Molecular Medicine, Leeds Institute of Medical Research, School of Medicine, University of Leeds, Leeds, UK
Manir Ali, Chris F. Inglehearn, Martin McKibbin & Carmel Toomes
Molecular Biology Research Unit, St John Eye Hospital Group, Jerusalem, Palestine
Ala’a AlTalbishi
Department of Ophthalmology, University Hospital of Lund, Lund, Sweden
Sten Andréasson
JC Self Research Institute, Greenwood Genetic Center, Greenwood, SC, USA
Gavin Arno
UCL Institute of Ophthalmology, University College London, London, UK
Gavin Arno, Jessica C. Gardner, Alison J. Hardcastle, Omar A. Mahroo, Michel Michaelides & Andrew R. Webster
National Institute of Health Research Biomedical Research Centre, Moorfields Eye Hospital, London, UK
Gavin Arno, Omar A. Mahroo, Michel Michaelides, Andrew R. Webster & Siying Lin
Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain
Carmen Ayuso, Fiona Blanco-Kelly, Lidia Fernández-Caballero & Ana Isabel Sánchez-Barbero
Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain
Carmen Ayuso, Fiona Blanco-Kelly, Lidia Fernández-Caballero & Ana Isabel Sánchez-Barbero
Department of Ophthalmology, Shiley Eye Institute, University of California San Diego, La Jolla, CA, USA
Radha Ayyagari & Pooja Biswas
Medical Genetics, Department of Precision Medicine, University of Campania “Luigi Vanvitelli”, Naples, Italy
Sandro Banfi, Marianthi Karali, Margherita Scarpato & Roberta Zeuli
Genomic Medicine, Telethon Institute of Genetics and Medicine, Pozzuoli, Italy
Sandro Banfi
Hadassah Medical Center, Division of Ophthalmology, The Hebrew University of Jerusalem, Jerusalem, Israel
Eyal Banin, Asodu Sandeep Sarma & Dror Sharon
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands
Tahsin Stefan Barakat, Lies H. Hoefsloot & Virginie J. M. Verhoeven
Department of Ophthalmology, Semmelweis University, Budapest, Hungary
Mirella T. S. Barboni, Krisztina Knézy, Zoltán Zsolt Nagy & Viktória Szabó
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
Miriam Bauwens, Elfride De Baere, Marieke De Bruyne, Bart P. Leroy, Quinten Mahieu, Nelson Martins & Mattias Van Heetvelde
Department of Biomolecular Medicine, Ghent University, Ghent, Belgium
Miriam Bauwens, Elfride De Baere, Marieke De Bruyne, Quinten Mahieu, Nelson Martins & Mattias Van Heetvelde
Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel
Tamar Ben-Yosef
GCS Auragen, Plan France Medecine Genomique, Lyon, France
Virginie Bernard, Luke Mansard & Francis Ramond
Retina Foundation of the Southwest, Dallas, TX, USA
David G. Birch & Kaylie Jones
Institute for Neurosciences of Montpellier (INM), Montpellier University, INSERM, Montpellier, France
Beatrice Bocquet, Vasiliki Kalatzis, Gaël Manes, Luke Mansard & Isabelle Meunier
National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Montpellier, France
Beatrice Bocquet, Vasiliki Kalatzis & Isabelle Meunier
Department of Ophthalmology, Leiden University Medical Center (LUMC), Leiden, the Netherlands
Camiel J. F. Boon
Department of Ophthalmology, Amsterdam University Medical Center, Amsterdam, the Netherlands
Camiel J. F. Boon
Department of Ophthalmology and Human Genetics, University of Michigan, Ann Arbor, MI, USA
Kari Branham
Department of Ophthalmology, University Hospital Necker Enfants Malades, APHP, Paris Cité University, Paris, France
Dominique Bremond-Gignac
UMRS1138, Centre de Recherche des Cordeliers, Université Paris Cité, INSERM, Paris, France
Dominique Bremond-Gignac, Cyril Burin des Roziers & Sophie Valleix
Department of Optometry and Vision Sciences, The University of Melbourne, Melbourne, Victoria, Australia
Alexis Ceecee Britten-Jones
Ocular Genomics Institute, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA, USA
Kinga M. Bujakowska, Eric A. Pierce, Emily Place & Riccardo Sangermano
Service de Médecine Génomique des Maladies de Système et d’Organe, Hôpital Cochin, AP-HP Centre Université Paris Cité, Paris, France
Cyril Burin des Roziers & Sophie Valleix
Laboratoire de Biologie Médicale SeqOIA, Site Broussais, Paris, France
Cyril Burin des Roziers & Sophie Valleix
Department of Epidemiology and Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA
Elizabeth L. Cadena, Stephen P. Daiger & Lori S. Sullivan
Vista Vision Eye Clinic, Brescia, Italy
Giacomo Calzetti
Clinical Translation Group, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland
Giacomo Calzetti
Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy
Luca Cattaneo, Simone Gana & Enza Maria Valente
Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, The University of Dublin, Dublin, Ireland
Naomi Chadderton, G. Jane Farrar & Laura Whelan
Department of Ophthalmology, TUM University Hospital, School of Medicine and Health, Technical University of Munich, Munich, Germany
Peter Charbel Issa
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK
Peter Charbel Issa
Serviço de Oftalmologia, Instituto de Oftalmologia Dr. Gama Pinto, Lisboa, Portugal
Luísa Coutinho-Santos & Cristina M. Santos
Department of Cell Therapy and Regenerative Medicine, Andalusian Molecular Biology and Regenerative Medicine Centre, CABIMER, Seville, Spain
Berta de la Cerda
Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia
John N. De Roach, Tina M. Lamey & Terri L. McLaren
Department of Head and Skin, Ghent University, Ghent, Belgium
Julie De Zaeytijd & Bart P. Leroy
Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium
Julie De Zaeytijd & Bart P. Leroy
Université de Lille, INSERM U1172 – LilNCog – Lille Neuroscience & Cognition, Lille, France
Claire-Marie Dhaenens
Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Lubica Dudakova, Petra Liskova & Marie Vajter
Department of Ophthalmology, University of California, San Francisco, Wayne and Gladys Valley Center for Vision, San Francisco, CA, USA
Jacque L. Duncan
Department of Medical Retina, Singapore National Eye Centre, Singapore, Singapore
Beau J. Fenner
Ophthalmology and Visual Sciences Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore, Singapore
Beau J. Fenner
Singapore Eye Research Institute, Singapore, Singapore
Beau J. Fenner
Department of Ophthalmology, Federal University of São Paulo, UNIFESP, São Paulo, Brazil
Juliana M. Ferraz Sallum
Department of Pediatrics, Amalia Children’s Hospital, Radboud University Medical Center, Nijmegen, the Netherlands
Alejandro Garanto
Department of Genetics, Microbiology and Statistics, Faculty of Biology, University of Barcelona, Barcelona, Spain
Roser Gonzàlez-Duarte & Rebeca Valero
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Kensuke Goto, Taro Kominami & Ai Fujita Sajiki
School of Biological Sciences, Division of Evolution, Infection, and Genomics, The University of Manchester, Manchester, UK
Sam Griffiths-Jones, Gillian I. Rice & Jamie M. Ellingford
Institute for Medical Genetics and Applied Genomics, University of Tübingen, Institute for Ophthalmic Research, University Hospital Tübingen, Tübingen, Germany
Tobias B. Haack & Theresia Zuleger
Center for Rare Disease, University of Tübingen, Tübingen, Germany
Tobias B. Haack
Genomics for Health in Africa (GHA), Africa-Europe Cluster of Research Excellence (CoRE), Ghana, South Africa
Tobias B. Haack
Department of Ophthalmology, The Jikei University School of Medicine, Minato-ku, Japan
Takaaki Hayashi & Kei Mizobuchi
Department of Ophthalmology and Vision Sciences, Ocular Genetics Program, The Hospital for Sick Children, Toronto, Ontario, Canada
Elise Héon
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, the Netherlands
Alexander Hoischen
Department of Ophthalmology, Oslo University Hospital, Oslo, Norway
Josephine P. Holtan
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands
Carel B. Hoyng & Caroline C. W. Klaver
Department of Ophthalmology, Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, DOH Eye Center, East Avenue Medical Center, Quezon City, Philippines
Manuel Benjamin B. Ibanez IV
Section of Pediatric Ophthalmology, Strabismus, and Ocular Genetics, Makati Medical Center, Makati City, Philippines
Manuel Benjamin B. Ibanez IV
Division of Molecular and Cellular Biology, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan
Takeshi Iwata, Yang Pan, Akiko Suga & Kazutoshi Yoshitake
deCODE genetics, Amgen Inc., Reykjavik, Iceland
Brynjar O. Jensson, Kari Stefansson & Patrick Sulem
Department of Inherited Retinal Dystrophies, Ophthalmic Genetics Group, OMMA, Ophthalmological Institute of Athens, Athens, Greece
Smaragda Kamakari
Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy
Marianthi Karali & Francesca Simonelli
Center for Rare Retinal Diseases, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum Siegburg GmbH, Siegburg, Germany
Ulrich Kellner
Department of Ophthalmology, Erasmus MC University Medical Center, Rotterdam, the Netherlands
Caroline C. W. Klaver, Alberta A. H. J. Thiadens & Virginie J. M. Verhoeven
Department of Pediatric Surgery, Division of Pediatric Ophthalmology, Montreal Children’s Hospital, McGill University Health Center (MUHC), Montreal, Quebec, Canada
Robert K. Koenekoop & Irma Lopez
Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany
Susanne Kohl & Bernd Wissinger
University Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany
Laura Kühlewein & Katarina Stingl
Department of Ophthalmology, Rambam Health Care Campus, Haifa, Israel
Rina Leibu
Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic
Petra Liskova & Marie Vajter
Department of Genetics, Institute of Ophthalmology “Conde de Valenciana”, Mexico City, Mexico
Victor R. de J. López-Rodríguez & Juan C. Zenteno
Section of Ophthalmology, King’s College London, St. Thomas’ Hospital Campus, London, UK
Omar A. Mahroo
Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK
Omar A. Mahroo
Molecular Genetics Laboratory, Montpellier University, CHU Montpellier, Montpellier, France
Luke Mansard
Department of Ophthalmology, Fundación Jiménez Díaz University Hospital, Madrid, Spain
M. Pilar Martín-Gutiérrez
Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia
Laura Mauring
Eye Clinic, Tartu University Hospital, Tartu, Estonia
Laura Mauring
Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia
Laura Mauring
Department of Ophthalmology, Leeds Teaching Hospitals NHS Trust, St James’s University Hospital, Leeds, UK
Martin McKibbin & Rajarshi Mukherjee
Instituto de Investigación Sanitaria La Fe (IIS La Fe) and CIBERER, Valencia, Spain
José M. Millán
Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland
Monika Ołdak
Department of Ophthalmology, School of Medicine, University of Crete, Heraklion, Crete, Greece
Anastasia Papachristou, Miltiadis K. Tsilimbaris & Pavlina Tsoka
Department of Medicine and Surgery, Medical Genetics, University of Parma, Parma, Italy
Antonio Percesepe
UCT/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
Raj Ramesar, Lisa Roberts & Casey Valentine
Department of Medical Genetics, Saint-Etienne University Hospital, Saint-Etienne, France
Francis Ramond
Department of Ophthalmology, HUB-Erasme Hospital, Brussels, Belgium
Florence Andrée Rasquin
Department of Neuroscience, Biodonostia Health Research Institute, Donostia-San Sebastián, Spain
María Rodríguez-Hidalgo & Javier Ruiz-Ederra
Department of Genetic, Physical Anthropology and Animal Physiology, University of the Basque Country (UPV/EHU), Leioa, Spain
María Rodríguez-Hidalgo
Department of Ophthalmology, University of the Basque Country (UPV/EHU), San Sebastián, Spain
Javier Ruiz-Ederra
West Midlands Clinical Genetics Unit, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Ataf H. Sabir
College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK
Ataf H. Sabir
iNOVA4Health, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisboa, Portugal
Cristina M. Santos
Department of Clinical Pharmacology, Medical University of Vienna, Vienna, Austria
Hendrik P. N. Scholl
Pallas Kliniken AG, Pallas Klinik Zürich, Zürich, Switzerland
Hendrik P. N. Scholl
European Vision Institute, Basel, Switzerland
Hendrik P. N. Scholl
Department of Child Neurology and Psychiatry, IRCCS Mondino Foundation, Pavia, Italy
Sabrina G. Signorini
Department of Medical Genetics, ULS Santa Maria, Lisboa, Portugal
Ana Berta Sousa
Laboratory of Basic Immunology, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal
Ana Berta Sousa
Department of Ophthalmology, School of Medicine, University of Ioannina, Ioannina, Greece
Maria Stefaniotou & Georgia G. Yioti
Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland
Kari Stefansson
Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland
Jacek P. Szaflik
SPKSO Ophthalmic University Hospital in Warsaw, Warsaw, Poland
Jacek P. Szaflik
Medical Genetics and Prenatal Diagnostics Clinic, Children’s Clinical University Hospital, Riga, Latvia
Gita Taurina
Department of Ophthalmology; Oculogenetics Unit, Jules Gonin University Hospital; University of Lausanne, Lausanne, Switzerland
Viet H. Tran & Veronika Vaclavik
Centre for Gene Therapy & Regenerative Medicine, King’s College London, London, UK
Viet H. Tran
Eye Disease Clinic, Children’s University Hospital Riga, Riga, Latvia
Sandra Valeina
Department of Molecular Medicine, University of Pavia, Pavia, Italy
Enza Maria Valente
Department of Ophthalmology, Pediatric Ophthalmology and Ophthalmogenetics, University Hospitals Leuven, Leuven, Belgium
Joseph van Aerschot
Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Science, University of Auckland, Auckland, New Zealand
Andrea L. Vincent
School of Pharmacy and Biomolecular Sciences (PBS), RCSI University of Medicine and Health Sciences, Dublin, Ireland
Laura Whelan
FutureNeuro Research Ireland Centre, RCSI University of Medicine and Health Sciences, Dublin, Ireland
Laura Whelan
Department of Biochemistry, Faculty of Medicine, UNAM, Mexico City, Mexico
Juan C. Zenteno
Bonei Olam – Center for Rare Jewish Genetic Diseases, Brooklyn, NY, USA
Chaim Landau
Physicians Dialysis, Miami, FL, USA
Allan I. Jacob
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary’s Hospital, Manchester, UK
Siying Lin
Faculty of Biology, Medicine and Health, School of Biological Sciences, Division of Evolution, Infection and Genomics, University of Manchester, Manchester, UK
Siying Lin
Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA
Winston Lee
Genomics England Ltd, London, UK
Jamie M. Ellingford
M.Q., F.P.M.C., S.R. and C.R. conceived and designed the study. M.Q., K.R., K.K. and M.U. analyzed pedigrees and genotypes. J.B., S.H.T., C.L., A.I.J., K.B.F. and W.L. contributed to the collection of material and clinical data for family M1-A. F.P.M.C., S.E.d.B., D.M.P., R.J.H.-M. and S.R. coordinated the collection of DNA samples. K.R., S.E.d.B., E.G.M.B., N.Z., L.K.H., Z. Corradi, S.S., D.M.P. and R.J.H.-M. performed the majority of the Sanger sequencing screening. K.K., A.B.I.-R. and M.F. carried out the molecular biology experiments. M.Q. and C.R. performed the statistical analyses. M.Q. and J.M.E. retrieved and analyzed large-scale data. K.R. and S.R. coordinated the genotyping of the cohorts. W.L. was responsible for clinical data analysis. Z. Cvackova and D. Stanek conducted all in vitro experiments. F.P.M.C., C.R. and S.R. supervised the project. M.Q., K.R., F.P.M.C., J.M.E., D. Stanek, S.R. and C.R. prepared the original draft of the manuscript. M.Q., K.R., S.R. and C.R. reviewed and edited the manuscript. M.A., A.A., S.A., G. Ansari, G. Arno, G.D.N.A., C.A., R.A., S.B., E.B., T.S.B., M.T.S.B., M.B., T.B.-Y., V.B., D.G.B., P.B., F.B.-K., B.B., C.J.F.B., K.B., D.B.-G., A.C.B.-J., K.M.B., C.B.d.R., E.L.C., G.C., F.C., L.C., N.C., P.C.I., L.C.-S., S.P.D., E.D.B., M.D.B., B.d.l.C., J.N.D.R., J.D.Z., R.D., C.-M.D., L.D., J.L.D., G.J.F., N.F., B.J.F., L.F.-C., J.M.F.S., S.G., A.G., J.C.G., C.G., R.G.-D., K.G., S.G.-J., T.B.H., L.H.-W., A.J.H., T.H., E.H., L.H.H., A.H., J.P.H., C.B.H., M.B.B.I., C.F.I., T.I., B.O.J., K.J., V.K., S. Kamakari, M.K., U.K., C.C.W.K., K.K., R.K.K., S. Kohl, T.K., L.K., T.M.L., R.L., B.P.L., S.L., P.L., I.L., V.R.d.J.L.-R., Q.M., O.A.M., G.M., L. Mansard, M.P.M.-G., N.M., L. Mauring, M. McKibbin, T.L.M., I.M., M. Michaelides, J.M.M., K.M., R.M., Z.Z.N., K.N., M. Ołdak, M. Oorsprong, Y.P., A. Papachristou, A. Percesepe, M.P., E.A.P., E.P., R.R., F.R., F.A.R., G.I.R., L.R., M.R.-H., J.R.-E., A.H.S., A.F.S., A.I.S.-B., A.S.S., R.S., C.M.S., M. Scarpato, H.P.N.S., D. Sharon, S.G.S., F.S., A.B.S., M. Stefaniotou, K. Stefansson, K. Stingl, A.S., P.S., L.S.S., V.S., J.P.S., G.T., A.A.H.J.T., C.T., V.H.T., M.K.T., P.T., V.V., M.V., S. Valeina, E.M.V., C.V., R.V., S. Valleix, J.v.A., L.I.v.d.B., M.V.H., V.J.M.V., A.L.V., A.R.W., L.W., B.W., G.G.Y., K.Y., J.C.Z., R.Z. and T.Z. were instrumental in acquiring funding, clinical data, validation of genetic or molecular data, and reviewing and editing the final manuscript. All authors approved the final content of this work.