Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case report

Autoimmune retinopathy (AIR) is a rare, potentially blinding retinal disease that remains a challenging condition to manage when resistant to conventional immune-modulatory approaches. We report clinical and electrophysiological improvement in a 49-year-old patient who underwent an autologous hemato...

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Main Authors: Wendy Meihua Wong, Yvonne Loh, Hwei Wuen Chan, Warren Fong, Soon-Phaik Chee, Adrian Koh, Graham E. Holder
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Immunology
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Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2024.1484798/full
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author Wendy Meihua Wong
Wendy Meihua Wong
Yvonne Loh
Hwei Wuen Chan
Hwei Wuen Chan
Warren Fong
Soon-Phaik Chee
Soon-Phaik Chee
Adrian Koh
Graham E. Holder
Graham E. Holder
author_facet Wendy Meihua Wong
Wendy Meihua Wong
Yvonne Loh
Hwei Wuen Chan
Hwei Wuen Chan
Warren Fong
Soon-Phaik Chee
Soon-Phaik Chee
Adrian Koh
Graham E. Holder
Graham E. Holder
author_sort Wendy Meihua Wong
collection DOAJ
description Autoimmune retinopathy (AIR) is a rare, potentially blinding retinal disease that remains a challenging condition to manage when resistant to conventional immune-modulatory approaches. We report clinical and electrophysiological improvement in a 49-year-old patient who underwent an autologous hematopoietic stem cell transplant (aHSCT) for thymoma-associated AIR after experiencing progressive disease despite receiving periocular and systemic steroids, mycophenolate mofetil, baricitinib, tacrolimus, bortezomib, rituximab, plasmapheresis, and intravenous immunoglobulin. The aHSCT had two stages: (i) peripheral blood stem cell harvest following mobilization with cyclophosphamide and granulocyte colony-stimulating factor, and (ii) conditioning regimen with plasmapheresis, rituximab, cyclophosphamide, and anti-thymocyte globulin high-dose therapy, followed by autologous hematopoietic cell infusion of 5.74 million cells. Symptoms of photopsia rapidly abated after undergoing aHSCT, and objective investigations of structure and function similarly demonstrated improvement. At 22 months’ follow-up, she continued to demonstrate the durability of the clinical response. The present report suggests that in judiciously selected patients, HSCT may provide a rescue option for refractory AIR. Further cases are needed to confirm these results.
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spelling doaj-art-15b014aa3f0848aab0186bf0487c8e352025-08-20T02:45:30ZengFrontiers Media S.A.Frontiers in Immunology1664-32242025-01-011510.3389/fimmu.2024.14847981484798Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case reportWendy Meihua Wong0Wendy Meihua Wong1Yvonne Loh2Hwei Wuen Chan3Hwei Wuen Chan4Warren Fong5Soon-Phaik Chee6Soon-Phaik Chee7Adrian Koh8Graham E. Holder9Graham E. Holder10Department of Ophthalmology, National University Hospital, National University Health System, Singapore, SingaporeCentre for Innovation and Precision Eye Health, Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, SingaporeCurie Oncology and Haematology, Mt Elizabeth Medical Centre, Singapore, SingaporeDepartment of Ophthalmology, National University Hospital, National University Health System, Singapore, SingaporeCentre for Innovation and Precision Eye Health, Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, SingaporeDepartment of Rheumatology and Immunology, Singapore General Hospital, Singapore, SingaporeDepartment of Ophthalmology, National University Hospital, National University Health System, Singapore, SingaporeEye and Retina Surgeons, Camden Medical Centre, Singapore, SingaporeEye and Retina Surgeons, Camden Medical Centre, Singapore, SingaporeDepartment of Ophthalmology, National University Hospital, National University Health System, Singapore, SingaporeCentre for Innovation and Precision Eye Health, Department of Ophthalmology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, SingaporeAutoimmune retinopathy (AIR) is a rare, potentially blinding retinal disease that remains a challenging condition to manage when resistant to conventional immune-modulatory approaches. We report clinical and electrophysiological improvement in a 49-year-old patient who underwent an autologous hematopoietic stem cell transplant (aHSCT) for thymoma-associated AIR after experiencing progressive disease despite receiving periocular and systemic steroids, mycophenolate mofetil, baricitinib, tacrolimus, bortezomib, rituximab, plasmapheresis, and intravenous immunoglobulin. The aHSCT had two stages: (i) peripheral blood stem cell harvest following mobilization with cyclophosphamide and granulocyte colony-stimulating factor, and (ii) conditioning regimen with plasmapheresis, rituximab, cyclophosphamide, and anti-thymocyte globulin high-dose therapy, followed by autologous hematopoietic cell infusion of 5.74 million cells. Symptoms of photopsia rapidly abated after undergoing aHSCT, and objective investigations of structure and function similarly demonstrated improvement. At 22 months’ follow-up, she continued to demonstrate the durability of the clinical response. The present report suggests that in judiciously selected patients, HSCT may provide a rescue option for refractory AIR. Further cases are needed to confirm these results.https://www.frontiersin.org/articles/10.3389/fimmu.2024.1484798/fullantiretinal antibodiesautoimmune retinopathyelectroretinogramhematopoietic stem cell transplantplasmapheresisthymoma
spellingShingle Wendy Meihua Wong
Wendy Meihua Wong
Yvonne Loh
Hwei Wuen Chan
Hwei Wuen Chan
Warren Fong
Soon-Phaik Chee
Soon-Phaik Chee
Adrian Koh
Graham E. Holder
Graham E. Holder
Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case report
Frontiers in Immunology
antiretinal antibodies
autoimmune retinopathy
electroretinogram
hematopoietic stem cell transplant
plasmapheresis
thymoma
title Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case report
title_full Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case report
title_fullStr Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case report
title_full_unstemmed Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case report
title_short Hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy: a case report
title_sort hematopoietic stem cell transplantation as rescue therapy for refractory autoimmune retinopathy a case report
topic antiretinal antibodies
autoimmune retinopathy
electroretinogram
hematopoietic stem cell transplant
plasmapheresis
thymoma
url https://www.frontiersin.org/articles/10.3389/fimmu.2024.1484798/full
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