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[多发性一过性白点综合征:一种遗传易感性?]

[Multiple evanescent white dot syndrome: a genetic predisposition?].

作者信息

Desarnaulds A B, Borruat F X, Herbort C P, Spertini F

机构信息

Hôpital Ophtalmique Jules Gonin, Lausanne.

出版信息

Klin Monbl Augenheilkd. 1996 May;208(5):301-2. doi: 10.1055/s-2008-1035221.

Abstract

BACKGROUND

Multiple evanescent white dot syndrome (MEWDS) is a benign acquired isolated chorioretinal disorder. Symptoms include photopsia, visual blur and scotomas. Ocular examination reveals multiple white dots at the level of the deep retina. A parainfectious disorder was suggested but the exact mechanism of MEWDS is still unknown. Postulating that MEWDS might be an antigen driven inflammatory reaction, we analyzed HLA subtypes in patients with MEWDS.

PATIENTS AND METHODS

Sixteen patients were diagnosed with MEWDS in Lausanne from 1985 to 1994. Blood was withdrawn in 9/16 patients. HLA-A, -B and -DR were sought.

RESULTS

HLA-B51 was detected in 4/9 patients (44.4%). Other HLA subtypes were detected sporadically.

CONCLUSIONS

The frequency of HLA-B51 haplotype was found to be 3.7 times more elevated than in a normal control caucasian group. This suggests the possibility that MEWDS might be a genetically determined disorder as it is the case for other ocular diseases like Birdshot chorioretinopathy (HLA-A29), Harada's disease (HLA-DRMT3), acute anterior uveitis (HLA-B27) or Behçet's disease (HLA-B51). We have no explanation for the presence of HLA-B51 in both Behçet's disease and MEWDS. The association of HLA-B51 and MEWDS needs confirmation by further testing.

摘要

背景

多发性一过性白点综合征(MEWDS)是一种良性获得性孤立性脉络膜视网膜疾病。症状包括闪光感、视力模糊和暗点。眼部检查可发现深层视网膜水平有多个白点。曾有人提出这是一种感染后疾病,但MEWDS的确切机制仍不清楚。假设MEWDS可能是一种抗原驱动的炎症反应,我们分析了MEWDS患者的HLA亚型。

患者与方法

1985年至1994年在洛桑,16例患者被诊断为MEWDS。16例中有9例患者采血,检测HLA - A、- B和 - DR。

结果

9例患者中有4例(44.4%)检测到HLA - B51。其他HLA亚型为散在发现。

结论

发现HLA - B51单倍型的频率比正常白种人对照组高3.7倍。这表明MEWDS可能是一种由基因决定的疾病,就像其他眼部疾病如鸟枪弹样脉络膜视网膜病变(HLA - A29)、原田病(HLA - DRMT3)、急性前葡萄膜炎(HLA - B27)或白塞病(HLA - B51)一样。我们无法解释白塞病和MEWDS中都存在HLA - B51的现象。HLA - B51与MEWDS之间的关联需要进一步检测来证实。

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