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

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Title: Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Authors: 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.
Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 May 01; Vol. 65 (5), pp. 22.
Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
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  Data: <searchLink fieldCode="AU" term="%22Heath+Jeffery+RC%22">Heath Jeffery RC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Thompson+JA%22">Thompson JA</searchLink>; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Lo+J%22">Lo J</searchLink>; School of Science, Edith Cowan University, Perth, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Chelva+ES%22">Chelva ES</searchLink>; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Armstrong+S%22">Armstrong S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Pulido+JS%22">Pulido JS</searchLink>; Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Procopio+R%22">Procopio R</searchLink>; Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, PA, United States.<br /><searchLink fieldCode="AU" term="%22Vincent+AL%22">Vincent AL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Bianco+L%22">Bianco L</searchLink>; 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Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.; Center of Frontier Medicine, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+CY%22">Lin CY</searchLink>; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chen+PL%22">Chen PL</searchLink>; Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Vincent+A%22">Vincent A</searchLink>; Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Tumber+A%22">Tumber A</searchLink>; Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Heon+E%22">Heon E</searchLink>; Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Grigg+JR%22">Grigg JR</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Jamieson+RV%22">Jamieson RV</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cornish+EE%22">Cornish EE</searchLink>; Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia.<br /><searchLink fieldCode="AU" term="%22Nash+BM%22">Nash BM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Borooah+S%22">Borooah S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ayton+LN%22">Ayton LN</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Britten-Jones+AC%22">Britten-Jones AC</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Edwards+TL%22">Edwards TL</searchLink>; 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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.
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