MFRP-Associated Retinopathy and Nanophthalmos in Two Irish Probands: A Case Report

Autor: Ann O’Connell, Julia Zhu, Kirk A.J. Stephenson, Laura Whelan, Adrian Dockery, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David Keegan

Publikováno v: Case Reports in Ophthalmology, Vol 13, Iss 3, Pp 1015-1023 (2022)

The conjunction of nanophthalmos (NO) and retinitis pigmentosa (RP) provides challenges to effective clinical management while narrowing the genetic spectrum for targeted molecular diagnostics. This case study describes two not knowingly related adul

Externí odkaz: https://doaj.org/article/1a31c0db87b54830859e4e84357d5f1b

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

Autor: Janine Reurink, Nicole Weisschuh, Alejandro Garanto, Adrian Dockery, L. Ingeborgh van den Born, Isabelle Fajardy, Lonneke Haer-Wigman, Susanne Kohl, Bernd Wissinger, G. Jane Farrar, Tamar Ben-Yosef, Fatma Kivrak Pfiffner, Wolfgang Berger, Marianna E. Weener, Lubica Dudakova, Petra Liskova, Dror Sharon, Manar Salameh, Ashley Offenheim, Elise Heon, Giorgia Girotto, Paolo Gasparini, Anna Morgan, Arthur A. Bergen, Jacoline B. ten Brink, Caroline C.W. Klaver, Lisbeth Tranebjærg, Nanna D. Rendtorff, Sascha Vermeer, Jeroen J. Smits, Ronald J.E. Pennings, Marco Aben, Jaap Oostrik, Galuh D.N. Astuti, Jordi Corominas Galbany, Hester Y. Kroes, Milan Phan, Wendy A.G. van Zelst-Stams, Alberta A.H.J. Thiadens, Joke B.G.M. Verheij, Mary J. van Schooneveld, Suzanne E. de Bruijn, Catherina H.Z. Li, Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Frans P.M. Cremers, Hannie Kremer, Erwin van Wijk, Susanne Roosing

Publikováno v: HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)

Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained. Therefore, we assessed subjects suspected of USH2A-asso

Externí odkaz: https://doaj.org/article/3a1d6bbbc0b84a3f9409fc1710e756ce

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

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

Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant

Autor: Kirk Stephenson, Adrian Dockery, Niamh Wynne, Matthew Carrigan, Paul Kenna, G. Jane Farrar, David Keegan

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-10 (2018)

Abstract Background To describe the clinical phenotype and genetic cause underlying the disease pathology in a pedigree (affected n = 9) with X-linked retinoschisis (XLRS1) due to a novel RS1 mutation and to assess suitability for novel therapies usi

Externí odkaz: https://doaj.org/article/9db300e736f6484298d2014ec8326ebe

Clinical and Genetic Re-Evaluation of Inherited Retinal Degeneration Pedigrees following Initial Negative Findings on Panel-Based Next Generation Sequencing

Autor: Kirk A. J. Stephenson, Julia Zhu, Adrian Dockery, Laura Whelan, Tomás Burke, Jacqueline Turner, James J. O’Byrne, G. Jane Farrar, David J. Keegan

Publikováno v: International Journal of Molecular Sciences; Volume 23; Issue 2; Pages: 995
International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 23, Iss 995, p 995 (2022)

Although rare, inherited retinal degenerations (IRDs) are the most common reason for blind registration in the working age population. They are highly genetically heterogeneous (>300 known genetic loci), and confirmation of a molecular diagnosis is a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d43413292766704136295dafa3ee0519