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

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

Retrospective case report and literature review.

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.

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.