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DOI 10.1182/bloodadvances.2025016970

Медицинская библиотека · Blood advances · 2025

RAG1 lentiviral gene therapy restores T-cell development of RAG1-SCID patient cells in artificial thymic organoids.

Meng Xiaolin, Melsen Janine E, van der Holst Rosalie, de Mooij Bas, Vloemans Sandra, van Eggermond Marja, Berghuis Dagmar, Lankester Arjan C, de Kivit Sander, Pike-Overzet Karin, Langerak Anton W, Staal Frank J T, Ott de Bruin Lisa M, Canté-Barrett Kirsten

Клиническое исследование I фазыКлиническое исследование II фазыСтатьяМногоцентровое исследованиеПеревод в очереди

Аннотация

INTRODUCTION

The co-occurrence of traumatic optic neuropathy (TON) and central retinal artery occlusion (CRAO) presents a significant clinical challenge due to their complex interactions and potential for profound visual impairment. This case report details a rare instance of both conditions following blunt ocular trauma, aiming to enhance understanding of their interplay and the necessity for timely intervention.

CASE REPORT: A 45-year-old woman presented with sudden vision loss in her right eye 3 h after sustaining blunt trauma from a wood fragment while chopping firewood. Initial examination revealed no light perception (NLP) in the affected eye and a relative afferent pupillary defect. Imaging revealed hyperdensity and thickening of the posterior sclera, the intraocular and anterior intraorbital optic nerve. Despite administration of intravenous steroids and a neurosurgical consultation for TON, retinal evaluation 1 day post-trauma revealed retinal edema, pallor, multiple vascular occlusions, and a cherry-red spot, leading to a diagnosis of CRAO associated with TON. Ongoing follow-ups showed persistent NLP in the right eye.

CONCLUSION

This case underscores the potential for concurrent TON and CRAO following ocular trauma, leading to a complex visual outcome, while also examining the underlying mechanisms that may contribute to this phenomenon. The report highlights the need for further investigation into effective therapeutic strategies and underscores the complexities involved in managing traumatic ocular conditions. Future studies should focus on optimizing medical or surgical interventions to improve visual outcomes for patients facing this challenging combination of injuries.

Для цитирования: Meng Xiaolin, Melsen Janine E, van der Holst Rosalie, de Mooij Bas, Vloemans Sandra, van Eggermond Marja, Berghuis Dagmar, Lankester Arjan C, de Kivit Sander, Pike-Overzet Karin, Langerak Anton W, Staal Frank J T, Ott de Bruin Lisa M, Canté-Barrett Kirsten. RAG1 lentiviral gene therapy restores T-cell development of RAG1-SCID patient cells in artificial thymic organoids.. Blood advances. 2025. DOI: 10.1182/bloodadvances.2025016970.

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