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IMPG2-associated retinal dystrophy with a novel missense variant and therapeutic options via adenine base editing.

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Title: IMPG2-associated retinal dystrophy with a novel missense variant and therapeutic options via adenine base editing.
Authors: Abdalla Elsayed MEA; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Barone V; Ophthalmology Complex Operative Unit, University Campus Bio-Medico, Rome, Italy., Kaukonen M; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Raybould MIJ; Oxford Protein Informatics Group, Department of Statistics, University of Oxford, Oxford, UK., MacLaren RE; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Source: Ophthalmic genetics [Ophthalmic Genet] 2026 Apr; Vol. 47 (2), pp. 172-178. Date of Electronic Publication: 2026 Jan 01.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Abdalla+Elsayed+MEA%22">Abdalla Elsayed MEA</searchLink>; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Barone+V%22">Barone V</searchLink>; Ophthalmology Complex Operative Unit, University Campus Bio-Medico, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Kaukonen+M%22">Kaukonen M</searchLink>; Department of Medical and Clinical Genetics, Faculty of Medicine, University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Raybould+MIJ%22">Raybould MIJ</searchLink>; Oxford Protein Informatics Group, Department of Statistics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22MacLaren+RE%22">MacLaren RE</searchLink>; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
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  Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2026 Apr; Vol. 47 (2), pp. 172-178. <i>Date of Electronic Publication: </i>2026 Jan 01.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1080/13816810.2025.2609679
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        Text: English
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              Text: 2026 Apr
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