Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial

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
  1. Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Germany.
  2. University Eye Hospital, Centre for Ophthalmology, Eberhard Karls University Tübingen, Germany.
  3. Lund University, Skane University Hospital, Department of Ophthalmology, Lund, Sweden.
  4. Department of Genetics, IIS-Fundación Jiménez Díaz-University Hospital; Universidad Autónoma de Madrid, Madrid, Spain.
  5. Centre for Biomedical Research on Rare Diseases, Madrid, Spain.
  6. Telethon Institute of Genetics and Medicine, Pozzuoli (NA) and Medical Genetics, Department of Precision Medicine, University of Campania “Luigi Vanvitelli,” Naples, Italy.
  7. Institute for Neurosciences of Montpellier Unité 1051, University of Montpellier, Montpellier, France.
  8. National Center for Rare Diseases, Genetics of Sensory Diseases, University Hospital, Montpellier, France.
  9. Praxis für Humangenetik Tübingen, Tübingen, Germany.
  10. Department of Ophthalmology, Leiden University Medical Center, Leiden University, Leiden, the Netherlands.
  11. Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, the Netherlands.
  12. Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neuroscience, University of Oxford, Oxford, United Kingdom.
  13. Department of Ophthalmology, University of Bonn, Germany.
  14. Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ Augenärztliches Diagnostik- und Therapiecentrum GmbH, Siegburg, Germany.
  15. RetinaScience, Bonn, Germany.
  16. Department of Ophthalmology Ghent University Hospital, Ghent, Belgium.
  17. Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  18. Division of Ophthalmology, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania.
  19. Center for Cellular & Molecular Therapeutics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania.
  20. Department of Ophthalmology, Kennedy Center, Rigshospitalet, Copenhagen, Denmark.
  21. Ophthalmogenetik, Augenklinik, Klinikum der Universität München, Munich, Germany.
  22. Department Ophthalmology, Erasmus MC, Rotterdam, the Netherlands.
  23. STZ Eyetrial, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.
  24. Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.
  25. Werner Reichardt Centre for Integrative Neuroscience, Eberhard Karls University Tübingen, Tübingen, Germany.