About the Authors

Alessandro Achilli

Contributed equally to this work with: Alessandro Achilli, Luisa Iommarini

Affiliation Dipartimento di Biologia Cellulare e Ambientale, Università di Perugia, Perugia, Italy

Luisa Iommarini

Contributed equally to this work with: Alessandro Achilli, Luisa Iommarini

Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

Anna Olivieri

Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

Maria Pala

Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

Baharak Hooshiar Kashani

Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

Pascal Reynier

Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University of Angers, School of Medicine, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

Chiara La Morgia

Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

Maria Lucia Valentino

Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

Rocco Liguori

Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

Fabio Pizza

Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

Piero Barboni

Affiliations IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy, Studio Oculistico D’Azeglio, Bologna, Italy

Federico Sadun

Affiliation Ospedale San Giovanni Evangelista, Tivoli, Italy

Anna Maria De Negri

Affiliation Azienda San Camillo-Forlanini, Rome, Italy

Massimo Zeviani

Affiliation Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children’s Mitochondrial Disorders, Foundation “C. Besta” Neurological Institute-IRCCS, Milan, Italy

Helene Dollfus

Affiliation Centre de référence pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

Antoine Moulignier

Affiliation Service de Neurologie, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France

Ghislaine Ducos

Affiliation Department of Ophthalmology, Saint Jean Languedoc Clinic, Toulouse, France

Christophe Orssaud

Affiliation Centre de Référence des Maladies Rares en Ophtalmologie, Consultationd ‘Ophtalmologie, HEGP, Assistance Publique – Hôpitaux de Paris, Paris, France

Dominique Bonneau

Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University of Angers, School of Medicine, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

Vincent Procaccio

Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University of Angers, School of Medicine, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

Beate Leo-Kottler

Affiliation Centre for Ophthalmology, University Clinics Tuebingen, Tubingen, Germany

Sascha Fauser

Affiliation Department of Vitreo-Retinal Surgery, Center of Ophthalmology, University of Cologne, Cologne, Germany

Bernd Wissinger

Affiliation Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University Clinics Tuebingen, Tuebingen, Germany

Patrizia Amati-Bonneau

Affiliations UMR INSERM, U1083-CNRS6214, Angers, France, University Hospital of Angers, Department of Biochemistry and Genetics, Angers, France

Antonio Torroni

Affiliation Dipartimento di Biologia e Biotecnologie, Università di Pavia, Pavia, Italy

Valerio Carelli

valerio.carelli@unibo.it

Affiliation IRCCS Istituto delle Scienze Neurologiche di Bologna and Dipartimento di Scienze Neurologiche, Università di Bologna, Bologna, Italy

Competing Interests

Piero Bordoni is employed by a commercial company: Studio Oculistico D’Azeglio. This does not alter the authors’ adherence to all of the PLoS ONE policies on sharing data and materials. All other authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: AT VC. Performed the experiments: AA LI AO MP BHK. Analyzed the data: AA LI AO MP BHK. Contributed reagents/materials/analysis tools: AT VC. Wrote the paper: AA LI VC AT. Performed the collection of clinical/biometric data, blood and DNA samples: PR CLM MLV RL FP PB FS AMDN MZ HD AM GD CO DB VP BLK SF BW PAB.