Partial Response to Abatacept for Bilateral Asymmetrical Intermediate Uveitis in CTLA-4 Haploinsufficiency.

IF 2 4区医学 Q2 OPHTHALMOLOGY

Ocular Immunology and Inflammation Pub Date : 2025-09-23 DOI:10.1080/09273948.2025.2504576

R Khalil, A Patel, P Torpiano, Austen Worth, H Petrushkin

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Abstract

Purpose: We report a case of bilateral asymmetrical intermediate uveitis in CTLA-4 haploinsufficiency and its response to abatacept.

Methods: Retrospective case report and literature review.

Results: A 12-year-old male on sirolimus for control of autoimmune cytopenias in the context of CTLA-4 haploinsufficiency developed sudden onset reduced vision in his left eye after one year of treatment. He had bilateral anterior segment inflammation and disc oedema, with subretinal fibrosis in the left eye. Fluorescein angiography revealed the presence of non-occlusive retinal vasculitis with asymmetrical diffuse capillaritis in the left eye. Optical coherence tomography (OCT) showed cystoid macular oedema in the left eye. He was treated with topical and systemic corticosteroids, and commenced on abatacept infusions. After two years of treatment, there was complete remission of anterior segment inflammation, resolution of disc oedema and improvement of microvascular leakage on fluorescein angiography. To date, there have been two case reports identifying uveitis in patients with CTLA-4 haploinsufficiency, both of which responded well to abatacept.

Conclusion: CTLA-4 haploinsufficiency may present with asymmetrical intermediate uveitis and abatacept has a potential role in its treatment. Our case demonstrates the response to treatment through sequential multimodal imaging, and has the longest reported follow-up to date.

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abataccept治疗CTLA-4单倍不全患者双侧不对称中度葡萄膜炎的部分反应。

目的：我们报告一例CTLA-4单倍体功能不全的双侧不对称中间葡萄膜炎及其对abataccept的反应。方法：回顾性病例报告和文献复习。结果：一名12岁男性在CTLA-4单倍功能不全的情况下接受西罗莫司治疗以控制自身免疫性细胞减少，在治疗一年后，他的左眼出现突发性视力下降。他有双侧前段炎症和椎间盘水肿，左眼视网膜下纤维化。荧光素血管造影显示左眼非闭塞性视网膜血管炎伴不对称弥漫性毛细血管炎。光学相干断层扫描（OCT）显示左眼黄斑囊样水肿。患者接受局部和全身皮质类固醇治疗，并开始阿巴接受输注。治疗2年后，前段炎症完全缓解，椎间盘水肿消退，荧光素血管造影显示微血管渗漏改善。迄今为止，有两例病例报告发现CTLA-4单倍功能不全患者存在葡萄膜炎，这两例患者对abataccept反应良好。结论：CTLA-4单倍体功能不全可能出现在不对称的中度葡萄膜炎中，阿巴接受有潜在的治疗作用。我们的病例通过连续的多模态成像证明了对治疗的反应，并且有迄今为止报道的最长的随访。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Ocular Immunology and Inflammation 医学-眼科学

CiteScore

6.20

自引率

15.20%

发文量

285

审稿时长

6-12 weeks

期刊介绍： Ocular Immunology & Inflammation ranks 18 out of 59 in the Ophthalmology Category.Ocular Immunology and Inflammation is a peer-reviewed, scientific publication that welcomes the submission of original, previously unpublished manuscripts directed to ophthalmologists and vision scientists. Published bimonthly, the journal provides an international medium for basic and clinical research reports on the ocular inflammatory response and its control by the immune system. The journal publishes original research papers, case reports, reviews, letters to the editor, meeting abstracts, and invited editorials.