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

Autor: Jurkute, Neringa, Shanmugarajah, Priya D, Hadjivassiliou, Marios, Higgs, Jenny, Vojcic, Miodrag, Horrocks, Iain, Nadjar, Yann, Touitou, Valerie, Lenaers, Guy, Poh, Roy, Acheson, James, Robson, Anthony G, Raymond, F Lucy, Reilly, Mary M, Yu-Wai-Man, Patrick, Moore, Anthony T, Webster, Andrew R, Arno, Gavin, Genomics England Research Consortium

Publikováno v: Investigative ophthalmology & visual science, vol 62, iss 6

PurposeThe purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants.MethodsPatients carrying biallelic candidate FDXR variants were ident

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::571a4f90c9353d80f98663c3bad7386d
https://escholarship.org/uc/item/3x32m4g1

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

Autor: Jurkute N; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom., Shanmugarajah PD; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, United Kingdom., Hadjivassiliou M; Academic Department of Neurosciences, Royal Hallamshire Hospital, Sheffield, United Kingdom., Higgs J; Liverpool Centre for Genomic Medicine, Liverpool Women's Hospital, Liverpool, United Kingdom., Vojcic M; Departments of Neurology and Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, United Kingdom., Horrocks I; Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, Scotland., Nadjar Y; Department of Neurology, Reference Center for Lysosomal Diseases, Neuro-Genetic and Metabolism Unit, Paris, France., Touitou V; Sorbonne University, Paris, France.; Groupe Hospitalier La Pitié Salpêtrière-Charles Foix, DHU Vision Et Handicaps, Paris, France., Lenaers G; Université Angers, MitoLab team, UMR CNRS 6015 - INSERM U1083, Angers, France., Poh R; Department of Neurogenetics, The National Hospital for Neurology and Neurosurgery and UCL Institute of Neurology, London, United Kingdom., Acheson J; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS trust, London, United Kingdom., Robson AG; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom., Raymond FL; NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom., Yu-Wai-Man P; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom.; Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, United Kingdom.; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom., Moore AT; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom.; Department of Ophthalmology, University of California, San Francisco, San Francisco, California, United States., Webster AR; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom., Arno G; Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.; Institute of Ophthalmology, University College London, London, United Kingdom.; Great Ormond Street Hospital for Children, London, United Kingdom.

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2021 May 03; Vol. 62 (6), pp. 2.