27 Chiasmal misrouting in infantile nystagmus syndrome (INS): phenotypes in patients with molecular diagnoses

Autor: M Theodorou, M Moosajee, MJ Gilhooley, MM Neveu

Publikováno v: BMJ Open Ophthalmology, Vol 8, Iss Suppl 3 (2023)

Externí odkaz: https://doaj.org/article/65d50cf2aef64bffbb6250499de84026

Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology.

Autor: Calcagni A; Department of Electrophysiology, Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College London, London, UK., Neveu MM; Department of Electrophysiology, Moorfields Eye Hospital, London, UK.; Institute of Ophthalmology, University College London, London, UK., Jurkute N; Institute of Ophthalmology, University College London, London, UK.; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; Department of Neuro-ophthalmology, Moorfields Eye Hospital, London, UK.; Department of Neuro-ophthalmology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, London, UK., Robson AG; Department of Electrophysiology, Moorfields Eye Hospital, London, UK. anthony.robson3@nhs.net.; Institute of Ophthalmology, University College London, London, UK. anthony.robson3@nhs.net.; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK. anthony.robson3@nhs.net.

Publikováno v: Eye (London, England) [Eye (Lond)] 2024 Aug; Vol. 38 (12), pp. 2392-2405. Date of Electronic Publication: 2024 Jun 11.

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.

Autor: Majander A; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom; Department of Ophthalmology, Helsinki University Hospital, University of Helsinki (A.M.), Helsinki, Finland. Electronic address: anna.majander@hus.fi., Jurkute N; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom., Burté F; Biosciences Institute, International Centre for Life, Newcastle University (F.B.), Newcastle upon Tyne, United Kingdom., Brock K; Cancer Research UK Clinical Trials Unit, University of Birmingham (K.B.), Birmingham, United Kingdom., João C; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom., Huang H; Hainan Hospital of the General Hospital of Chinese People's Liberation Army (H.H.), Sanya, China., Neveu MM; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom., Chan CM; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom., Duncan HJ; Newcastle Eye Centre, Royal Victoria Infirmary (H.J.D.), Newcastle upon Tyne, United Kingdom., Kelly S; Bolton NHS Foundation Trust (S.K., F.K., Y.T.L.), Bolton, United Kingdom., Burkitt-Wright E; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust (E.B.-W.), Manchester, United Kingdom; Division of Evolution and Genomic Sciences, University of Manchester, Manchester Academic Health Sciences Centre (E.B.-W.), Manchester, United Kingdom., Khoyratty F; Bolton NHS Foundation Trust (S.K., F.K., Y.T.L.), Bolton, United Kingdom., Lai YT; Bolton NHS Foundation Trust (S.K., F.K., Y.T.L.), Bolton, United Kingdom., Subash M; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom., Chinnery PF; MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge (P.F.C.), Cambridge, United Kingdom., Bitner-Glindzicz M; Great Ormond Street Hospital, Great Ormond Street, London (M.B.-G.), United Kingdom., Arno G; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom., Webster AR; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom., Moore AT; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom; Department of Ophthalmology, UCSF School of Medicine (A.T.M.), San Francisco, California, USA., Michaelides M; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom., Stockman A; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom., Robson AG; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom., Yu-Wai-Man P; From the UCL Institute of Ophthalmology (A.M., N.J., C.J., M.M.N., C.M.C., M.S., G.A., A.R.W., A.T.M., M.M., A.S., A.G.R., P.Y.-W.-M.), London, United Kingdom; Moorfields Eye Hospital (A.M., N.J., M.M.N., C.M.C., G.A., A.R.W., A.T.M., M.M., A.G.R., P.Y.-W.-M.), London, United Kingdom; John van Geest Centre for Brain Repair and MRC Mitochondrial Biology Unit, Department of Clinical Neurosciences, University of Cambridge (P.Y.-W.-M.), Cambridge, United Kingdom; and Cambridge Eye Unit, Addenbrooke's Hospital, Cambridge University Hospitals (P.Y.-W.-M.), Cambridge, United Kingdom.

Publikováno v: American journal of ophthalmology [Am J Ophthalmol] 2022 Sep; Vol. 241, pp. 9-27. Date of Electronic Publication: 2022 Apr 22.

Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.

Autor: Chan HW; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Department of Ophthalmology, National University Singapore, Singapore S118177, Singapore., Schiff ER; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Tailor VK; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Experimental Psychology, University College London, London WC1H 0AP, UK., Malka S; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK., Neveu MM; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Theodorou M; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK., Moosajee M; Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UK.; Institute of Ophthalmology, University College London, London EC1V 9EL, UK.; Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.; The Francis Crick Institute, London NW1 1AT, UK.

Publikováno v: Genes [Genes (Basel)] 2021 Mar 30; Vol. 12 (4). Date of Electronic Publication: 2021 Mar 30.

Isolated rod dysfunction associated with a novel genotype of CNGB1 .

Autor: Ba-Abbad R; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK., Holder GE; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK.; Department of Ophthalmology, National University of Singapore, Singapore., Robson AG; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK., Neveu MM; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK., Waseem N; UCL Institute of Ophthalmology, University College London, London, UK., Arno G; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK., Webster AR; UCL Institute of Ophthalmology, University College London, London, UK.; Moorfields Eye Hospital, London, UK.

Publikováno v: American journal of ophthalmology case reports [Am J Ophthalmol Case Rep] 2019 Mar 19; Vol. 14, pp. 83-86. Date of Electronic Publication: 2019 Mar 19 (Print Publication: 2019).