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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Autor: Heath Jeffery RC; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.; Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., Lo J; School of Science, Edith Cowan University, Perth, Western Australia, Australia., Chelva ES; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., Armstrong S; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., Pulido JS; Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, PA, United States., Procopio R; Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, PA, United States., Vincent AL; Department of Ophthalmology, FMHS, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand., Bianco L; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Battaglia Parodi M; Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Ziccardi L; IRCCS-Fondazione Bietti, Rome, Italy., Antonelli G; IRCCS-Fondazione Bietti, Rome, Italy., Barbano L; IRCCS-Fondazione Bietti, Rome, Italy., Marques JP; Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Clinical and Academic Centre of Coimbra (CACC), Coimbra, Portugal., Geada S; Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Clinical and Academic Centre of Coimbra (CACC), Coimbra, Portugal., Carvalho AL; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal., Tang WC; Singapore National Eye Centre, Singapore, Singapore.; Singapore Eye Research Institute, Singapore, Singapore., Chan CM; Singapore National Eye Centre, Singapore, Singapore.; Singapore Eye Research Institute, Singapore, Singapore., Boon CJF; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands.; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, the Netherlands., Hensman J; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, the Netherlands., Chen TC; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Center of Frontier Medicine, National Taiwan University Hospital, Taipei, Taiwan., Lin CY; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan., Chen PL; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan., Vincent A; Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada., Tumber A; Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada., Heon E; Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada., Grigg JR; Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Jamieson RV; Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Cornish EE; Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia., Nash BM; Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia., Borooah S; University of California San Diego, La Jolla, California.; The Viterbi Family Department of Ophthalmology and Shiley Eye Institute, University of California San Diego, La Jolla, CA, United States., Ayton LN; Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia., Britten-Jones AC; Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia., Edwards TL; Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia., Ruddle JB; Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia., Sharma A; Ophthalmology Department, Royal Brisbane and Women's Hospital, Brisbane, Australia., Porter RG; Southern Queensland Centre of Excellence, Inala, Australia., Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., McLaren TL; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., McLenachan S; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia., Roshandel D; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.; Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 May 01; Vol. 65 (5), pp. 22.