About the Authors

Isabelle Perrault

Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

Alejandro Estrada-Cuzcano

Affiliation Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Irma Lopez

Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada

Susanne Kohl

Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany

Shiqiang Li

Affiliation State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yatsen University, Guangzhou, China

Francesco Testa

Affiliation Department of Ophthalmology, Second University of Naples, Naples, Italy

Renate Zekveld-Vroon

Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands

Xia Wang

Affiliation Department of Molecular and Human Genetics, Baylor College of Medecine, Houston, Texas, United States of America

Esther Pomares

Affiliation Faculty of Biology, Department of Genetics, University of Barcelona, Barcelona, Spain

Jean Andorf

Affiliation Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medecine, Iowa City, Iowa, United States of America

Nisrine Aboussair

Affiliation Service de Génétique CHU Mohammed VI, Faculté de Médecine et de Pharmacie, Université Caddi Ayyed, Marrakech, Morocco

Sandro Banfi

Affiliations Telethon Institute of Genetics and Medecine (TIGEM), Naples, Italy, Medical Genetics, Department of General Pathology, Second University of Naples, Naples, Italy

Nathalie Delphin

Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

Anneke I. den Hollander

Affiliations Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Catherine Edelson

Affiliation Ophtalmo-pédiatrie, Fondation Rothschild, Paris, France

Ralph Florijn

Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands

Marc Jean-Pierre

Affiliation Institut Cochin, Université Paris Descartes, Paris, France

Corinne Leowski

Affiliation Institut National des Jeunes Aveugles, Paris, France

Andre Megarbane

Affiliation Service de Génétique Médicale, Université Saint Joseph, Beyrouth, Lebanon

Cristina Villanueva

Affiliation Servicio de Génética, Asociacion Para Evitar La Ceguera en Mexico, Mexico City, Mexico

Blanca Flores

Affiliation Servicio de Génética, Asociacion Para Evitar La Ceguera en Mexico, Mexico City, Mexico

Arnold Munnich

Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

Huanan Ren

Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada

Ditta Zobor

Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany

Arthur Bergen

Affiliation The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, The Netherlands

Rui Chen

Affiliation Department of Molecular and Human Genetics, Baylor College of Medecine, Houston, Texas, United States of America

Frans P. M. Cremers

Affiliation Department of Human genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

Roser Gonzalez-Duarte

Affiliation Faculty of Biology, Department of Genetics, University of Barcelona, Barcelona, Spain

Robert K. Koenekoop

Affiliation McGill Ocular Genetics Laboratory, Montreal Children's Hospital, McGill University Health Centre, Montreal, Canada

Francesca Simonelli

Affiliation Department of Ophthalmology, Second University of Naples, Naples, Italy

Edwin Stone

Affiliation Department of Ophthalmology and Visual Sciences, The University of Iowa Carver College of Medecine, Iowa City, Iowa, United States of America

Bernd Wissinger

Affiliation University Eye Hospital, Institute for Ophthalmic Research, Tübingen University, Tübingen, Germany

Qingjiong Zhang

Affiliation State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yatsen University, Guangzhou, China

Josseline Kaplan

Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

Jean-Michel Rozet

jean-michel.rozet@inserm.fr

Affiliation Unité de Recherches Génétique et Epigénétique des Maladies Métaboliques, Neurosensorielles et du Développement (INSERM U781)- Université Paris Descartes- Fondation IMAGINE, Paris, France

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AIH A. Munnich DZ AB RC FC RGD RKK FS ES BW QZ JK JMR. Performed the experiments: IP AEC IL SK SL FT RZ XW EP JA ND SB RF HR CV BF. Analyzed the data: AIH A. Munnich DZ AB RC FC RGD RKK FS ES BW QZ JK JMR MJP. Contributed reagents/materials/analysis tools: NA CE CL A. Megarbane SB CV BF. Wrote the paper: IP AIH A. Munnich DZ AB RC FC RGD RKK FS ES BW QZ JK JMR.