Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His
Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His
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DOI：
10.3129/i09-023
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发表时间：
2009-06-01
影响因子：
4.2
通讯作者：
Alport, Edward
中科院分区：
文献类型：
--
作者：
Schweitzer, Kelly;Ehmann, David;Alport, Edward
目的：描述3例眼白质脑膜淀粉样变性（OLMA）。设计：描述性病例系列。参与者：三个兄弟姐妹谁提出与飞蚊症和视力下降。方法：一个完整的眼科检查，磁共振成像，细胞学和遗传学研究进行了临床实践。每一个同胞都通过睫状体平坦部玻璃体切除术进行治疗。刚果红染色的玻璃体标本在偏振光下观察时显示苹果绿双折射。甲状腺素运载蛋白（TTR）基因中的Tyr69His突变在遗传学上被证实在2的siblings.Conclusion：这份报告增加了有关OLMA及其与TTR基因中的Tyr69His突变的关联的文献。尽管目前尚无有效的治疗方法，但经睫状体平坦部玻璃体切除术的对症治疗似乎是有益的。
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.Conclusion: 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.