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首页> 外文期刊>Canadian journal of ophthalmology >Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His.
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Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His.

机译：3名患有甲状腺素转运蛋白变体Tyr69His的人的眼睑脑膜淀粉样变性病。

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OBJECTIVE: To describe 3 cases of oculoleptomeningeal amyloidosis (OLMA). DESIGN: Descriptive case series. PARTICIPANTS: Three siblings who presented with floaters and decreased visual acuity. METHODS: A complete ophthalmologic examination, magnetic resonance imaging, cytological, and genetic studies were carried out in clinical practice. Each sibling was treated by means of pars plana vitrectomy. Vitreous samples stained with Congo Red revealed apple-green birefringence when viewed under polarized light. RESULTS: In each case, visual acuity improved greatly after pars plana vitrectomy. A Tyr69His mutation in the transthyretin (TTR) gene was genetically confirmed in 2 of the siblings. CONCLUSIONS: This report adds to the literature regarding OLMA and its association with a Tyr69His mutation in the TTR gene. Despite no proven therapy at this time, symptomatic treatment with pars plana vitrectomy appears to be beneficial.
机译：目的：描述3例眼睑-脑膜周围性淀粉样变性病（OLMA）。设计：描述性案例系列。参加者：三名兄弟姐妹出现了漂浮物并降低了视敏度。方法：在临床实践中进行了完整的眼科检查，磁共振成像，细胞学和遗传学研究。每个兄弟姐妹都通过平面玻璃体切除术进行治疗。当在偏振光下观察时，用刚果红染色的玻璃样样品显示出苹果绿色双折射。结果：在每种情况下，平板玻璃体切除术后视力都得到了很大改善。在两个同胞中遗传证实了转甲状腺素蛋白（TTR）基因中的Tyr69His突变。结论：本报告增加了有关OLMA及其与TTR基因中Tyr69His突变的关联的文献。尽管目前尚无行之有效的疗法，但采用平板玻璃体切除术对症治疗似乎是有益的。

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