Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial
Authors
Laura Kuehlewein 1 2, Ditta Zobor 1, Sten Olof Andreasson 3, Carmen Ayuso 4 5, Sandro Banfi 6, Beatrice Bocquet 7 8, Antje S Bernd 2, Saskia Biskup 9, Camiel J F Boon 10 11, Susan M Downes 12, M Dominik Fischer 1 2, Frank G Holz 13, Ulrich Kellner 14 15, Bart P Leroy 16 17 18 19, Isabelle Meunier 7 8, Fadi Nasser 1, Thomas Rosenberg 20, Günther Rudolph 21, Katarina Stingl 2, Alberta A H J Thiadens 22, Barbara Wilhelm 23, Bernd Wissinger 24, Eberhart Zrenner 1 25, Susanne Kohl 24, Nicole Weisschuh 24, RD-CURE Consortium
- Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Germany.
- University Eye Hospital, Centre for Ophthalmology, Eberhard Karls University Tübingen, Germany.
- Lund University, Skane University Hospital, Department of Ophthalmology, Lund, Sweden.
- Department of Genetics, IIS-Fundación Jiménez Díaz-University Hospital; Universidad Autónoma de Madrid, Madrid, Spain.
- Centre for Biomedical Research on Rare Diseases, Madrid, Spain.
- Telethon Institute of Genetics and Medicine, Pozzuoli (NA) and Medical Genetics, Department of Precision Medicine, University of Campania „Luigi Vanvitelli,“ Naples, Italy.
- Institute for Neurosciences of Montpellier Unité 1051, University of Montpellier, Montpellier, France.
- National Center for Rare Diseases, Genetics of Sensory Diseases, University Hospital, Montpellier, France.
- Praxis für Humangenetik Tübingen, Tübingen, Germany.
- Department of Ophthalmology, Leiden University Medical Center, Leiden University, Leiden, the Netherlands.
- Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
- Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom.
- Department of Ophthalmology, University of Bonn, Germany.
- Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum GmbH, Siegburg, Germany.
- RetinaScience, Bonn, Germany.
- Department of Ophthalmology Ghent University Hospital, Ghent, Belgium.
- Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
- Division of Ophthalmology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania.
- Center for Cellular & Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania.
- Department of Ophthalmology, Kennedy Center, Rigshospitalet, Copenhagen, Denmark.
- Ophthalmogenetik, Augenklinik, Klinikum der Universität München, Munich, Germany.
- Department Ophthalmology, Erasmus MC, Rotterdam, the Netherlands.
- STZ Eyetrial, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.
- Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.
- Werner Reichardt Centre for Integrative Neuroscience, Eberhard Karls University Tübingen, Tübingen, Germany.