Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Paul F, Kenna"'
Publikováno v:
BMJ Open Ophthalmology, Vol 9, Iss 1 (2024)
Background We investigated Leber hereditary optic neuropathy (LHON) families for variation in peripapillary retinal nerve fibre layer thickness and perfusion, and associated optic nerve dysfunction.Method A group of LHON-affected patients (n=12) and
Externí odkaz:
https://doaj.org/article/ec13de1eac254affbe7b34f810515a4f
Autor:
Sophia Millington-Ward, Arpad Palfi, Ciara Shortall, Laura K. Finnegan, Ethan Bargroff, Iris J. M. Post, John Maguire, Mustapha Irnaten, Colm O′Brien, Paul F. Kenna, Naomi Chadderton, G. Jane Farrar
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8876 (2024)
Glaucoma, a leading cause of blindness, is a multifactorial condition that leads to progressive loss of retinal ganglion cells (RGCs) and vision. Therapeutic interventions based on reducing ocular hypertension are not always successful. Emerging feat
Externí odkaz:
https://doaj.org/article/0f1204aa36ff4590917aaa132f3ca47c
Autor:
Laura Whelan, Adrian Dockery, Kirk A. J. Stephenson, Julia Zhu, Ella Kopčić, Iris J. M. Post, Mubeen Khan, Zelia Corradi, Niamh Wynne, James J. O’ Byrne, Emma Duignan, Giuliana Silvestri, Susanne Roosing, Frans P. M. Cremers, David J. Keegan, Paul F. Kenna, G. Jane Farrar
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-16 (2023)
Abstract Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4
Externí odkaz:
https://doaj.org/article/c46ab88922e84dc084946bcf34d83944
Autor:
Arpad Palfi, Naomi Chadderton, Sophia Millington-Ward, Iris Post, Pete Humphries, Paul F. Kenna, G. Jane Farrar
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 25, Iss , Pp 236-249 (2022)
Recombinant adeno-associated virus (AAV) vectors are one of the main gene delivery vehicles used in retinal gene therapy approaches; however, there is a need to further improve the efficacy, tropism, and safety of these vectors. In this study, using
Externí odkaz:
https://doaj.org/article/71890c9910244be2891351755ac994bd
Autor:
Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery, Zelia Corradi, Christian Gilissen, Lonneke Haer-Wigman, Jordi Corominas, Galuh D. N. Astuti, Laura de Rooij, L. Ingeborgh van den Born, Caroline C. W. Klaver, Carel B. Hoyng, Niamh Wynne, Emma S. Duignan, Paul F. Kenna, Frans P. M. Cremers, G. Jane Farrar, Susanne Roosing
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
Abstract Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain genetically unexplained following conven
Externí odkaz:
https://doaj.org/article/134ff20611604419a17d57355443d530
Autor:
Sophia Millington‐Ward, Naomi Chadderton, Laura K. Finnegan, Iris J.M. Post, Matthew Carrigan, Tom Gardiner, Elisa Peixoto, Daniel Maloney, Marian M. Humphries, Alan Stitt, Thierry Léveillard, Pete Humphries, Paul F. Kenna, Arpad Palfi, G. Jane Farrar
Publikováno v:
Clinical and Translational Medicine, Vol 12, Iss 8, Pp n/a-n/a (2022)
Externí odkaz:
https://doaj.org/article/dd509cf8d833486f904bb413d8b73afb
Autor:
Kirk A. J. Stephenson, Julia Zhu, Niamh Wynne, Adrian Dockery, Rebecca M. Cairns, Emma Duignan, Laura Whelan, Conor P. Malone, Hilary Dempsey, Karen Collins, Shana Routledge, Rajiv Pandey, Elaine Crossan, Jacqueline Turner, James J. O’Byrne, Laura Brady, Giuliana Silvestri, Paul F. Kenna, G. Jane Farrar, David J. Keegan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Abstract Introduction Inherited retinal degenerations (IRD) are rare genetic disorders with > 300 known genetic loci, manifesting variably progressive visual dysfunction. IRDs were historically underserved due to lack of effective interventions. Many
Externí odkaz:
https://doaj.org/article/1e2946a4b4e241398534724d3c217c69
Autor:
Sophia Millington-Ward, Naomi Chadderton, Laura K. Finnegan, Iris J. M. Post, Matthew Carrigan, Rachel Nixon, Marian M. Humphries, Pete Humphries, Paul F. Kenna, Arpad Palfi, G. Jane Farrar
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 4, p 3847 (2023)
Age-related macular degeneration (AMD) is the most common cause of blindness in the aged population. However, to date there is no effective treatment for the dry form of the disease, representing 85–90% of cases. AMD is an immensely complex disease
Externí odkaz:
https://doaj.org/article/10cf573b722541f2b917776ae3286207
Autor:
Naomi Chadderton, Arpad Palfi, Daniel M. Maloney, Matthew Carrigan, Laura K. Finnegan, Killian S. Hanlon, Ciara Shortall, Mary O’Reilly, Peter Humphries, Lorraine Cassidy, Paul F. Kenna, Sophia Millington-Ward, G. Jane Farrar
Publikováno v:
Pharmaceutics, Vol 15, Iss 2, p 322 (2023)
AAV gene therapy for ocular disease has become a reality with the market authorisation of LuxturnaTM for RPE65-linked inherited retinal degenerations and many AAV gene therapies currently undergoing phase III clinical trials. Many ocular disorders ha
Externí odkaz:
https://doaj.org/article/bd632e8c331249f2b641b632703c689a
Autor:
Paul F Kenna, Marian M Humphries, Anna-Sophia Kiang, Philippe Brabet, Laurent Guillou, Ema Ozaki, Matthew Campbell, G Jane Farrar, Robert Koenekoop, Pete Humphries
Publikováno v:
BMJ Open Ophthalmology, Vol 5, Iss 1 (2020)
Objectives No therapeutic interventions are currently available for autosomal dominant retinitis pigmentosa (adRP). An RPE65 Asp477Gly transition associates with late-onset adRP, reduced RPE65 enzymatic activity being one feature associated with this
Externí odkaz:
https://doaj.org/article/b2c508a232bf43a1be3e4db852091f21