Determinants of Disease Penetrance in PRPF31 -Associated Retinopathy.

Autor: McLenachan S; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Zhang D; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Grainok J; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia., Zhang X; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Huang Z; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Chen SC; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Zaw K; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia.; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia., Lima A; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia., Jennings L; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Roshandel D; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Moon SY; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Heath Jeffery RC; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Attia MS; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., Lamey TM; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., McLaren TL; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., De Roach J; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., Fletcher S; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, WA 6150, Australia.; Centre for Neuromuscular and Neurological Disorders, The University of Western Australia, Nedlands, WA 6009, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, WA 6009, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, WA 6000, Australia.; Department of Ophthalmology, Perth Children's Hospital, Nedlands, WA 6009, Australia.

Publikováno v: Genes [Genes (Basel)] 2021 Sep 28; Vol. 12 (10). Date of Electronic Publication: 2021 Sep 28.

Optical Attenuation Coefficient-Based En Face Optical Coherence Tomography Imaging for the Reliable Assessment of the Ellipsoid Zone.

Autor: Sakai, Hiroaki¹ (AUTHOR), Kuji, Riku² (AUTHOR) ymoriguchi@topcon.com, Moriguchi, Yoshikiyo² (AUTHOR) makiba@topcon.com, Yamashita, Shoko¹ (AUTHOR), Takamori, Ayako³ (AUTHOR), Tamura, Masato² (AUTHOR), Mino, Toshihiro² (AUTHOR), Akiba, Masahiro² (AUTHOR), Enaida, Hiroshi¹ (AUTHOR) enaida@cc.saga-u.ac.jp

Publikováno v: Journal of Clinical Medicine. Dec2024, Vol. 13 Issue 23, p7140. 11p.

Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).

Autor: Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Perth, Nedlands, WA, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia., Zhang X; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Perth, Nedlands, WA, Australia., Eintracht J; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Perth, Nedlands, WA, Australia., Zhang D; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Perth, Nedlands, WA, Australia., Arunachalam S; Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Perth, Nedlands, WA, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia., Chelva E; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia., Mallon D; Department of Immunology, Fiona Stanley Hospital, Perth, WA, Australia., Chen SC; Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Perth, Nedlands, WA, Australia., McLaren T; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia., Lamey T; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia., De Roach J; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia., McLenachan S; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia. smclenachan@lei.org.au.; Ocular Tissue Engineering Laboratory, Lions Eye Institute, 2 Verdun Street, Perth, Nedlands, WA, Australia. smclenachan@lei.org.au.

Publikováno v: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2019 Feb; Vol. 138 (1), pp. 55-70. Date of Electronic Publication: 2018 Nov 16.

EQ-5D-5L health utility scores in Australian adults with inherited retinal diseases: A cross-sectional survey.

Autor: McGuinness MB; Centre for Eye Research Australia, Royal Victorian Eye & Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia., Ayton LN; Centre for Eye Research Australia, Royal Victorian Eye & Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.; Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia., Schofield D; GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia., Britten-Jones AC; Centre for Eye Research Australia, Royal Victorian Eye & Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia., Chen FK; Centre for Eye Research Australia, Royal Victorian Eye & Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.; Centre for Ophthalmology and Visual Sciences (incorporating Lions Eye Institute), The University of Western Australia, Perth, Western Australia, Australia.; Department of Ophthalmology, Perth Children's Hospital, Nedlands, Western Australia, Australia., Grigg JR; Save Sight Institute, The University of Sydney, Sydney, New South Wales, Australia.; Eye Genetics Research Unit, Sydney Children's Hospitals Network, Save Sight Institute, Children's Medical Research Institute, University of Sydney, Sydney, New South Wales, Australia., Qi Z; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, Victoria, Australia., Kraindler J; GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia., Shrestha R; GenIMPACT: Centre for Economic Impacts of Genomic Medicine, Macquarie Business School, Macquarie University, Sydney, New South Wales, Australia., Mack HG; Centre for Eye Research Australia, Royal Victorian Eye & Ear Hospital, University of Melbourne, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.

Publikováno v: Acta ophthalmologica [Acta Ophthalmol] 2024 Aug; Vol. 102 (5), pp. e736-e745. Date of Electronic Publication: 2024 Jan 16.

Developing an item bank to measure the coping strategies of people with hereditary retinal diseases.

Autor: Prem Senthil M; NHMRC Centre for Clinical Eye Research, Flinders University of South Australia, Adelaide, South Australia, 5001, Australia. prem0013@flinders.edu.au.; Optometry and Vision Science, Flinders University of South Australia, Bedford Park, South Australia, 5001, Australia. prem0013@flinders.edu.au., Khadka J; NHMRC Centre for Clinical Eye Research, Flinders University of South Australia, Adelaide, South Australia, 5001, Australia.; Optometry and Vision Science, Flinders University of South Australia, Bedford Park, South Australia, 5001, Australia., De Roach J; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Register and DNA Bank (AIRDR), Sir Charles Gairdner Hospital, Nedlands, Western Australia, 6009, Australia.; Centre for Ophthalmology and Visual Science, Faculty of Medicine, Dentistry and Health Science, University of Western Australia, Perth, Western Australia, 6009, Australia., Lamey T; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Register and DNA Bank (AIRDR), Sir Charles Gairdner Hospital, Nedlands, Western Australia, 6009, Australia.; Centre for Ophthalmology and Visual Science, Faculty of Medicine, Dentistry and Health Science, University of Western Australia, Perth, Western Australia, 6009, Australia., McLaren T; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Register and DNA Bank (AIRDR), Sir Charles Gairdner Hospital, Nedlands, Western Australia, 6009, Australia., Campbell I; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Register and DNA Bank (AIRDR), Sir Charles Gairdner Hospital, Nedlands, Western Australia, 6009, Australia., Fenwick EK; Centre for Eye Research Australia, the Royal Victorian Eye, and Ear Hospital, University of Melbourne, Melbourne, Australia.; Singapore National Eye Centre, Singapore Eye Research Institute, Singapore, Singapore.; Duke-National University of Singapore Medical School, Singapore, Singapore., Lamoureux EL; Centre for Eye Research Australia, the Royal Victorian Eye, and Ear Hospital, University of Melbourne, Melbourne, Australia.; Singapore National Eye Centre, Singapore Eye Research Institute, Singapore, Singapore.; Duke-National University of Singapore Medical School, Singapore, Singapore., Pesudovs K; NHMRC Centre for Clinical Eye Research, Flinders University of South Australia, Adelaide, South Australia, 5001, Australia.; Optometry and Vision Science, Flinders University of South Australia, Bedford Park, South Australia, 5001, Australia.

Publikováno v: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2018 Jul; Vol. 256 (7), pp. 1291-1298. Date of Electronic Publication: 2018 May 05.