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

Author:

Heath Jeffery Rachael C.123,Thompson Jennifer A.4,Lo Johnny5,Chelva Enid S.4,Armstrong Sean14,Pulido Jose S.6,Procopio Rebecca6,Vincent Andrea L.78,Bianco Lorenzo9,Battaglia Parodi Maurizio9,Ziccardi Lucia10,Antonelli Giulio10,Barbano Lucilla10,Marques João P.11,Geada Sara11,Carvalho Ana L.12,Tang Wei C.1314,Chan Choi M.1314,Boon Camiel J. F.1516,Hensman Jonathan16,Chen Ta-Ching1718,Lin Chien-Yu17,Chen Pei-Lung17,Vincent Ajoy19,Tumber Anupreet19,Heon Elise19,Grigg John R.2021,Jamieson Robyn V.2021,Cornish Elisa E.20,Nash Benjamin M.2122,Borooah Shyamanga2324,Ayton Lauren N.252627,Britten-Jones Alexis Ceecee252627,Edwards Thomas L.252627,Ruddle Jonathan B.2526,Sharma Abhishek28,Porter Rowan G.29,Lamey Tina M.4,McLaren Terri L.14,McLenachan Samuel1,Roshandel Danial1,Chen Fred K.123426

Affiliation:

1. Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, Western Australia, Australia

2. Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia

3. Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia

4. Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia

5. School of Science, Edith Cowan University, Perth, Western Australia, Australia

6. Wills Eye Hospital, Mid Atlantic Retina, Thomas Jefferson University, Philadelphia, PA, United States

7. Department of Ophthalmology, FMHS, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand

8. Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand

9. Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, Milan, Italy

10. IRCCS-Fondazione Bietti, Rome, Italy

11. Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Clinical and Academic Centre of Coimbra (CACC), Coimbra, Portugal

12. Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal

13. Singapore National Eye Centre, Singapore, Singapore

14. Singapore Eye Research Institute, Singapore, Singapore

15. Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands

16. Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, the Netherlands

17. Department of Ophthalmology, National Taiwan University Hospital, Taipei, Taiwan

18. Center of Frontier Medicine, National Taiwan University Hospital, Taipei, Taiwan

19. Department of Ophthalmology, Hospital for Sick Children, Toronto, Ontario, Canada

20. Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, Australia

21. Eye Genetics Research Unit, Children's Medical Research Institute, The Children's Hospital at Westmead, Sydney, New South Wales, Australia

22. Sydney Genome Diagnostics, Western Sydney Genetics Program, Sydney Children's Hospitals Network, Sydney, New South Wales, Australia

23. University of California San Diego, La Jolla, California

24. The Viterbi Family Department of Ophthalmology and Shiley Eye Institute, University of California San Diego, La Jolla, CA, United States

25. Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia

26. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia

27. Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia

28. Ophthalmology Department, Royal Brisbane and Women's Hospital, Brisbane, Australia

29. Southern Queensland Centre of Excellence, Inala, Australia

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

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