Purpose

To evaluate plasma antiretinal autoantibody (ARA) profiling and diagnostic efficacy for autoimmune retinopathy (AIR).

Design

A multicenter, diagnostic evaluation study.

Methods

Forty-nine patients with a clinical diagnosis of AIR, disease controls including 20 patients with retinitis pigmentosa (RP), and 30 normal controls were included. Plasma samples from patients were analyzed for the presence of 6 ARAs, including recoverin, α-enolase, carbonic anhydrase II, heat shock protein 60, aldolase C, and cone-rod homeobox/cone-rod retinal dystrophy 2 using western blotting.

Results

Autoantibody detection rates against cone-rod homeobox/cone-rod retinal dystrophy 2, heat shock protein 60, and aldolase C in AIR were 67.3%, 40.8%, and 42.9%, respectively, which were higher than those in RP and normal controls (P < .001, P < .001, and P = .007, respectively), but recoverin, α-enolase, and carbonic anhydrase II were not different from other control groups (P = .117, P = .774, and P = .467, respectively). Among ARAs, antirecoverin antibody was the most specific, as it was found in 3 (6.1%) patients with AIR and none of the control groups. As the number of detected ARAs increased, the probability of AIR increased (odds ratio: 1.913; P < .001; 95% confidence interval: 1.456-2.785). The positive number of ARAs was significantly higher when photoreceptor disruption was observed on optical coherence tomography, or severe dysfunction was observed in electroretinography (P = .022 and P = .029, respectively).

Conclusions

The profiles of ARAs in the AIR group were different from those in the RP and normal controls. The higher number of positive ARAs suggests a higher possibility of AIR diagnosis. ARAs should be used as adjunct tools for the clinical diagnosis of AIR.

中文翻译：

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自身免疫性视网膜病变患者的血浆抗视网膜自身抗体谱分析和诊断效能

目的

评估血浆抗视网膜自身抗体 (ARA) 分析和诊断自身免疫性视网膜病变 (AIR) 的功效。

设计

一项多中心、诊断性评估研究。

方法

包括 49 名临床诊断为 AIR 的患者、包括 20 名视网膜色素变性 (RP) 患者在内的疾病对照和 30 名正常对照。使用蛋白质印迹分析患者血浆样本中是否存在 6 种 ARA，包括恢复素、α-烯醇化酶、碳酸酐酶 II、热休克蛋白 60、醛缩酶 C 和锥杆同源框/锥杆视网膜营养不良 2。

结果

AIR中锥杆同源框/锥杆视网膜营养不良2、热休克蛋白60和醛缩酶C的自身抗体检出率分别为67.3%、40.8%和42.9%，高于RP和正常对照组（P < .001、P < .001 和P  = .007），但恢复素、α-烯醇化酶和碳酸酐酶 II 与其他对照组没有差异（P  = .117、P  = .774 和P  = .467，分别）。在 ARA 中，抗恢复素抗体的特异性最高，因为它在 3 名 (6.1%) 的 AIR 患者中发现，而在对照组中没有发现。随着检测到的 ARA 数量的增加，AIR 的概率增加（优势比：1.913；P<.001; 95% 置信区间：1.456-2.785）。当在光学相干断层扫描中观察到光感受器破坏或在视网膜电图中观察到严重功能障碍时，ARA 的阳性数量显着增加（分别为P  = .022 和P  = .029）。

结论

AIR 组中 ARA 的分布与 RP 和正常对照组中的不同。阳性 ARA 的数量越多表明 AIR 诊断的可能性越高。ARA 应作为 AIR 临床诊断的辅助工具。