Ophthalmology, University Hospitals Leuven, Leuven, Belgium.
Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.
Ocul Immunol Inflamm. 2024 Nov;32(9):2031-2037. doi: 10.1080/09273948.2024.2316759. Epub 2024 Apr 22.
In 15 patients with idiopathic uveitis associated with retinal vasculitis, HLA DRB1 gene testing was performed to detect a possible association. 11 patients tested positive and 4 negative for the HLA DRB1 × 15 allele. The presence of the HLA DRB1 × 15 haplotype might be associated with a higher susceptibility to develop Multiple Sclerosis (MS).
In this case series, we describe the ophthalmological and neurological findings in 10 HLA DR15-positive patients and 4 HLA DR15-negative patients that had neurological workup, including Magnetic Resonance Imaging (MRI) of the brain.
All patients had granulomatous ocular inflammation with either panuveitis or intermediate uveitis. MRI of the brain showed white matter lesions in 13 patients (9/10 and 4/4 respectively) of which 4 patients were eventually diagnosed with MS (3/10 and 1/4 respectively).
Although the majority of tested patients was carrying at least one HLA DRB1-15 allele, there was no difference in ophthalmological and neurological findings in both groups.
在 15 例特发性葡萄膜炎伴视网膜血管炎患者中,进行了 HLA-DRB1 基因检测,以检测可能的关联。11 例患者 HLA-DRB115 等位基因检测阳性,4 例阴性。HLA-DRB115 单倍型的存在可能与多发性硬化症(MS)的易感性增加有关。
在本病例系列研究中,我们描述了 10 例 HLA-DR15 阳性患者和 4 例 HLA-DR15 阴性患者的眼科和神经科发现,这些患者均进行了神经学检查,包括大脑磁共振成像(MRI)。
所有患者均有肉芽肿性眼内炎症,表现为全葡萄膜炎或中间葡萄膜炎。13 例患者(分别为 9/10 和 4/4)的大脑 MRI 显示有脑白质病变,其中 4 例最终被诊断为 MS(分别为 3/10 和 1/4)。
尽管大多数接受测试的患者至少携带一个 HLA-DRB1*15 等位基因,但两组患者在眼科和神经科表现上无差异。