Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

Author:

Jurkute Neringa12,Shanmugarajah Priya D.3,Hadjivassiliou Marios3,Higgs Jenny4,Vojcic Miodrag5,Horrocks Iain6,Nadjar Yann7,Touitou Valerie89,Lenaers Guy10,Poh Roy11,Acheson James112,Robson Anthony G.12,Raymond F. Lucy1314,Reilly Mary M.15,Yu-Wai-Man Patrick121617,Moore Anthony T.1218,Webster Andrew R.12,Arno Gavin1219,

Affiliation:

1. Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom

2. Institute of Ophthalmology, University College London, London, United Kingdom

3. Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, United Kingdom

4. Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom

5. Departments of Neurology and Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom

6. Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, Scotland

7. Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism Unit, Paris, France

8. Sorbonne University, Paris, France

9. Groupe Hospitalier La Pitié Salpêtrière-Charles Foix, DHU Vision Et Handicaps, Paris, France

10. Université Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Angers, France

11. Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London, United Kingdom

12. National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS trust, London, United Kingdom

13. NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom

14. Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom

15. Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom

16. Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom

17. John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom

18. Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States

19. Great Ormond Street Hospital for Children, London, United Kingdom

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

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