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Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

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Title: Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.
Authors: Anas M; Department of Ophthalmology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Ophthalmology, Guy's & St Thomas' NHS Foundation Trust, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK., Browning AC; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK., Lin S; UCL Institute of Ophthalmology, University College London, London, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust, Manchester, UK., Mahroo OA; Department of Ophthalmology, Guy's & St Thomas' NHS Foundation Trust, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK., Webster AR; UCL Institute of Ophthalmology, University College London, London, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK., Reynolds M; Department of Ophthalmology and Visual Sciences, Washington University in St. Louis, St. Louis, MO, USA., Milman T; Department of Pathology, Wills Eye Hospital, Sidney Kimmel College of Medicine at Thomas Jefferson University, Philadelphia, USA., Eagle RC Jr; Department of Pathology, Wills Eye Hospital, Sidney Kimmel College of Medicine at Thomas Jefferson University, Philadelphia, USA., Vile R; Departments of Molecular Medicine and Immunology, Mayo Clinic, Rochester, MN, USA.; Joan Reece Chair of Immuno-oncology, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, and School of Immunology and Microbial Sciences, Kings College London, London, UK., Toso M; John A. Moran Eye Centre, Department of Ophthalmology & Visual Sciences, University of Utah, Salt Lake City, UT, USA., Hageman GS; John A. Moran Eye Centre, Department of Ophthalmology & Visual Sciences, University of Utah, Salt Lake City, UT, USA., Nazari H; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA., Van Kuijk EJ; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA., Pulido JS; Department of Ophthalmology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA. jpulido@willseye.org.
Source: Eye (London, England) [Eye (Lond)] 2026 Jun; Vol. 40 (9), pp. 1378-1386. Date of Electronic Publication: 2026 Apr 09.
Publication Type: Journal Article; Review; Case Reports; Multicenter Study
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5454 (Electronic) Linking ISSN: 0950222X NLM ISO Abbreviation: Eye (Lond) Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Anas+M%22">Anas M</searchLink>; Department of Ophthalmology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Ophthalmology, Guy's & St Thomas' NHS Foundation Trust, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Browning+AC%22">Browning AC</searchLink>; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK.<br /><searchLink fieldCode="AU" term="%22Lin+S%22">Lin S</searchLink>; UCL Institute of Ophthalmology, University College London, London, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital Manchester University NHS Foundation Trust, Manchester, UK.<br /><searchLink fieldCode="AU" term="%22Mahroo+OA%22">Mahroo OA</searchLink>; Department of Ophthalmology, Guy's & St Thomas' NHS Foundation Trust, London, UK.; UCL Institute of Ophthalmology, University College London, London, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.<br /><searchLink fieldCode="AU" term="%22Webster+AR%22">Webster AR</searchLink>; UCL Institute of Ophthalmology, University College London, London, UK.; NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, UK.<br /><searchLink fieldCode="AU" term="%22Reynolds+M%22">Reynolds M</searchLink>; Department of Ophthalmology and Visual Sciences, Washington University in St. Louis, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Milman+T%22">Milman T</searchLink>; Department of Pathology, Wills Eye Hospital, Sidney Kimmel College of Medicine at Thomas Jefferson University, Philadelphia, USA.<br /><searchLink fieldCode="AU" term="%22Eagle+RC+Jr%22">Eagle RC Jr</searchLink>; Department of Pathology, Wills Eye Hospital, Sidney Kimmel College of Medicine at Thomas Jefferson University, Philadelphia, USA.<br /><searchLink fieldCode="AU" term="%22Vile+R%22">Vile R</searchLink>; Departments of Molecular Medicine and Immunology, Mayo Clinic, Rochester, MN, USA.; Joan Reece Chair of Immuno-oncology, Comprehensive Cancer Centre, School of Cancer and Pharmaceutical Sciences, and School of Immunology and Microbial Sciences, Kings College London, London, UK.<br /><searchLink fieldCode="AU" term="%22Toso+M%22">Toso M</searchLink>; John A. Moran Eye Centre, Department of Ophthalmology & Visual Sciences, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Hageman+GS%22">Hageman GS</searchLink>; John A. Moran Eye Centre, Department of Ophthalmology & Visual Sciences, University of Utah, Salt Lake City, UT, USA.<br /><searchLink fieldCode="AU" term="%22Nazari+H%22">Nazari H</searchLink>; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Van+Kuijk+EJ%22">Van Kuijk EJ</searchLink>; Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Pulido+JS%22">Pulido JS</searchLink>; Department of Ophthalmology, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA. jpulido@willseye.org.
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