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首页> 外文期刊>Retinal cases & brief reports >TRANSTHYRETIN V30M FAMILIAL AMYLOIDOSIS PRESENTING AS ISOLATED RETINAL ANGIOPATHY
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TRANSTHYRETIN V30M FAMILIAL AMYLOIDOSIS PRESENTING AS ISOLATED RETINAL ANGIOPATHY

机译：Transthyretin v30m家族淀粉样蛋白症呈现为孤立的视网膜血管病

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Purpose: To describe a patient with confirmed transthyretin V30M form of familial amyloidosis who presented initially with isolated retinal angiopathy. Methods: Retrospective chart review. Results: A 66-year-old woman presented with bilateral retinal angiopathy. Extensive workup for an infectious, inflammatory, or hypercoagulable cause was unrevealing. The patient subsequently developed bilateral neovascularization of the optic nerve and iris complicated by recurrent vitreous hemorrhages, which were treated with intravitreal bevacizumab and panretinal photocoagulation. The development of cardiac and gastrointestinal symptoms 5 years after presentation led to tissue biopsies that revealed both Congo red staining and apple-green birefringence in polarized light, confirming the diagnosis of systemic amyloidosis. Sequencing of the transthyretin gene confirmed the patient to be heterozygous for the common amyloidogenic V30M mutation. Conclusion: The common transthyretin V30M form of familial amyloidotic polyneurop-athy can rarely present with retinal angiopathy. Recurrent vitreous hemorrhages were treated successfully with intravitreal bevacizumab and panretinal photocoagulation.
机译：目的：描述患有确诊的Transthyretin V30M形式的家族淀粉样蛋白患者，其最初用隔离的视网膜血管病变呈现。方法：回顾性图表审查。结果：一名66岁女性患有双侧视网膜血管病变。广泛的次数对传染病，炎症或高迦勒的原因进行了肆无忌惮。患者随后通过经常性的玻璃体出血，通过玻璃体玻璃纤维素和PANRetinal光凝治疗了视神经和虹膜的双侧新血管形成了视神经和虹膜。介绍后5年的心脏和胃肠道症状的发展导致组织活组织检查显示刚果红染色和苹果绿双折射在偏振光下，证实了系统性淀粉样蛋白病的诊断。 Transthyretin基因的测序证实患者对常见的淀粉样蛋白V30m突变杂合。结论：常见的Transthyretin V30M形式的家族性淀粉样蛋白多肌植物可以很少存在视网膜血管病。经常性玻璃体出血用玻璃体玻璃纤维素和Panretinal光凝治疗。

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