Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA.
Ocul Immunol Inflamm. 2024 Oct;32(8):1888-1892. doi: 10.1080/09273948.2023.2250441. Epub 2023 Sep 13.
To describe a case of bilateral panuveitis in an 11-year-old girl with autoimmune lymphoproliferative syndrome (ALPS) due to haploinsufficiency.
A 5-year-old girl developed cervical adenopathy, and autoimmune hemolytic anemia and thrombocytopenia consistent with Evan's Syndrome. She was subsequently diagnosed with autosomal dominant haploinsuffciency and treated with immunosuppressants. Ocular symptoms developed 6 years later when she complained of blurry vision and photophobia. There were 3+ anterior chamber cells and 1+ flare, stellate keratic precipitates, and 3+ vitreous cells in both eyes. On fluorescein angiography, there was staining along the arcades and peripheral perivascular leakage in both eyes. On indocyanine green angiography, there were hypofluorescent spots throughout the posterior pole. The inflammation was partially responsive to topical and oral corticosteroids.
Panuveitis may be associated with ALPS due to haploinsufficiency. Retinal and choroidal involvement should be assessed when anterior chamber inflammation is the presenting sign.
描述一例由于单倍剂量不足导致的自身免疫性淋巴增生综合征（ALPS）的 11 岁女孩双侧全葡萄膜炎。
一名 5 岁女孩出现颈淋巴结病，以及自身免疫性溶血性贫血和符合 Evans 综合征的血小板减少症。随后她被诊断为常染色体显性单倍剂量不足，并接受免疫抑制剂治疗。6 年后，她出现视力模糊和畏光的眼部症状。双眼前房均有 3+细胞和 1+闪光，星状角膜沉淀物，以及 3+玻璃体细胞。在荧光素血管造影中，双眼弓状血管和周边血管周围渗漏处有染色。吲哚青绿血管造影显示后极部有低荧光点。炎症部分对局部和口服皮质类固醇有反应。
全葡萄膜炎可能与由于单倍剂量不足导致的 ALPS 有关。当前房炎症为首发表现时，应评估视网膜和脉络膜的受累情况。
