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Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.

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Title: Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.
Authors: Georgiou M; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom; Duke Eye Center (O.A.M., R.S.M.), Durham, North Carolina, USA., Fujinami K; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom; Laboratory of Visual Physiology (K.F., Y.F.Y.), Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan; Department of Ophthalmology (K.F.), Keio University School of Medicine, Tokyo, Japan., Fujinami-Yokokawa Y; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom; Laboratory of Visual Physiology (K.F., Y.F.Y.), Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan; Department of Health Policy and Management (Y.F.Y.), Keio University School of Medicine, Tokyo, Japan., Nasser F; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Gale MJ; Department of Ophthalmology (M.J.G., M.E.P.), Oregon Health & Science University - Casey Eye Institute, Portland, Oregon, USA., Ayuso C; Department of Genetics (C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER) (C.A.), ISCIII, Madrid, Spain., Mahroo OA; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom., Pontikos N; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom., Bouzia Z; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom., Jimenez-Rolando B; Department of Ophthalmology (B.J.R., E.C.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Carreño E; Department of Ophthalmology (B.J.R., E.C.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Baraas RC; National Centre for Optics (R.C.B.), Vision and Eye Care, University of South-Eastern Norway, Kongsberg, Norway., Holtan JP; Department of Ophthalmology (J.P.H., R.B.), Oslo University Hospital, Oslo, Norway., Bragadottir R; Department of Ophthalmology (J.P.H., R.B.), Oslo University Hospital, Oslo, Norway., Thiadens AAHJ; Department of Ophthalmology (A.A.H.J.T.), Erasmus Medical Centre (), Rotterdam, the Netherlands., Pechhacker MG; Department of Ophthalmology and Vision Sciences (M.G.P., A.V., E.H.), The Hospital for Sick Children, Toronto, Ontario, Canada., Vincent A; Department of Ophthalmology and Vision Sciences (M.G.P., A.V., E.H.), The Hospital for Sick Children, Toronto, Ontario, Canada., Héon E; Department of Ophthalmology and Vision Sciences (M.G.P., A.V., E.H.), The Hospital for Sick Children, Toronto, Ontario, Canada., Altalbishi A; Department of Ophthalmology (A.A.), St John of Jerusalem Eye Hospital, Jerusalem., Maldonado RS; Duke Eye Center (O.A.M., R.S.M.), Durham, North Carolina, USA., Neidhardt J; Human Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany., Kousal B; Department of Ophthalmology (J.N., B.K., P.L.), First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Lišková P; Department of Ophthalmology (J.N., B.K., P.L.), First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Bertelsen M; University of Copenhagen (M.B., L.M.L.), Copenhagen, Denmark; Department of Clinical Genetics (M.B., L.M.L.), Rigshospitalet, Copenhagen, Denmark., Larsen LM; University of Copenhagen (M.B., L.M.L.), Copenhagen, Denmark; Department of Clinical Genetics (M.B., L.M.L.), Rigshospitalet, Copenhagen, Denmark., Pennesi ME; Department of Ophthalmology (M.J.G., M.E.P.), Oregon Health & Science University - Casey Eye Institute, Portland, Oregon, USA; Retina Foundation of the Southwest (M.E.P.), Dallas, Texas, USA., Kohl S; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Wissinger B; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Zrenner E; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany., Webster AR; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom., Michaelides M; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom. Electronic address: michel.michaelides@ucl.ac.uk.
Source: American journal of ophthalmology [Am J Ophthalmol] 2025 Oct; Vol. 278, pp. 73-80. Date of Electronic Publication: 2025 Jun 06.
Publication Type: Journal Article; Multicenter Study
Journal Info: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy.
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  Data: <searchLink fieldCode="AU" term="%22Georgiou+M%22">Georgiou M</searchLink>; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom; Duke Eye Center (O.A.M., R.S.M.), Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Fujinami+K%22">Fujinami K</searchLink>; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom; Laboratory of Visual Physiology (K.F., Y.F.Y.), Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan; Department of Ophthalmology (K.F.), Keio University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Fujinami-Yokokawa+Y%22">Fujinami-Yokokawa Y</searchLink>; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom; Laboratory of Visual Physiology (K.F., Y.F.Y.), Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan; Department of Health Policy and Management (Y.F.Y.), Keio University School of Medicine, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Nasser+F%22">Nasser F</searchLink>; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Gale+MJ%22">Gale MJ</searchLink>; Department of Ophthalmology (M.J.G., M.E.P.), Oregon Health & Science University - Casey Eye Institute, Portland, Oregon, USA.<br /><searchLink fieldCode="AU" term="%22Ayuso+C%22">Ayuso C</searchLink>; Department of Genetics (C.A.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER) (C.A.), ISCIII, Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Mahroo+OA%22">Mahroo OA</searchLink>; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Pontikos+N%22">Pontikos N</searchLink>; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Bouzia+Z%22">Bouzia Z</searchLink>; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Jimenez-Rolando+B%22">Jimenez-Rolando B</searchLink>; Department of Ophthalmology (B.J.R., E.C.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Carreño+E%22">Carreño E</searchLink>; Department of Ophthalmology (B.J.R., E.C.), Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Baraas+RC%22">Baraas RC</searchLink>; National Centre for Optics (R.C.B.), Vision and Eye Care, University of South-Eastern Norway, Kongsberg, Norway.<br /><searchLink fieldCode="AU" term="%22Holtan+JP%22">Holtan JP</searchLink>; Department of Ophthalmology (J.P.H., R.B.), Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Bragadottir+R%22">Bragadottir R</searchLink>; Department of Ophthalmology (J.P.H., R.B.), Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Thiadens+AAHJ%22">Thiadens AAHJ</searchLink>; Department of Ophthalmology (A.A.H.J.T.), Erasmus Medical Centre (), Rotterdam, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Pechhacker+MG%22">Pechhacker MG</searchLink>; Department of Ophthalmology and Vision Sciences (M.G.P., A.V., E.H.), The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Vincent+A%22">Vincent A</searchLink>; Department of Ophthalmology and Vision Sciences (M.G.P., A.V., E.H.), The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Héon+E%22">Héon E</searchLink>; Department of Ophthalmology and Vision Sciences (M.G.P., A.V., E.H.), The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Altalbishi+A%22">Altalbishi A</searchLink>; Department of Ophthalmology (A.A.), St John of Jerusalem Eye Hospital, Jerusalem.<br /><searchLink fieldCode="AU" term="%22Maldonado+RS%22">Maldonado RS</searchLink>; Duke Eye Center (O.A.M., R.S.M.), Durham, North Carolina, USA.<br /><searchLink fieldCode="AU" term="%22Neidhardt+J%22">Neidhardt J</searchLink>; Human Genetics, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, 26129 Oldenburg, Germany.; Research Center Neurosensory Science, University of Oldenburg, 26129 Oldenburg, Germany.<br /><searchLink fieldCode="AU" term="%22Kousal+B%22">Kousal B</searchLink>; Department of Ophthalmology (J.N., B.K., P.L.), First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Lišková+P%22">Lišková P</searchLink>; Department of Ophthalmology (J.N., B.K., P.L.), First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Bertelsen+M%22">Bertelsen M</searchLink>; University of Copenhagen (M.B., L.M.L.), Copenhagen, Denmark; Department of Clinical Genetics (M.B., L.M.L.), Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Larsen+LM%22">Larsen LM</searchLink>; University of Copenhagen (M.B., L.M.L.), Copenhagen, Denmark; Department of Clinical Genetics (M.B., L.M.L.), Rigshospitalet, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Pennesi+ME%22">Pennesi ME</searchLink>; Department of Ophthalmology (M.J.G., M.E.P.), Oregon Health & Science University - Casey Eye Institute, Portland, Oregon, USA; Retina Foundation of the Southwest (M.E.P.), Dallas, Texas, USA.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Wissinger+B%22">Wissinger B</searchLink>; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Zrenner+E%22">Zrenner E</searchLink>; Institute for Ophthalmic Research (F.N., S.K., B.W., E.Z.), Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Michaelides+M%22">Michaelides M</searchLink>; From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom. Electronic address: michel.michaelides@ucl.ac.uk.
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