PDF(Pubmed)
Abstract：
Familial amyloid polyneuropathy is a rare autosomal dominant hereditary disease. Optic nerve involvement is frequently observed secondary to uncontrolled glaucoma but, rarely, an ischaemic optic neuropathy can occur. In this case report we describe a patient who presented with bilateral progressive visual loss and constriction of his visual fields. Fundus examination showed intense paleness of both optic discs with elevated, poorly defined margins that seemed to be infiltrated. Fundus autofluorescence and enhanced-depth imaging optical coherence tomography ruled out the presence of optic disc drusen. Orbital magnetic resonance imaging ruled out any sign of orbital compression, inflammation or infiltration of the optic nerve. The mechanism of small vessel amyloid infiltration and a possible vessel compression by amyloid in the optic nerve head is discussed.
摘要：
家族性淀粉样多发性神经病是一种罕见的常染色体显性遗传性疾病。经常观察到视神经受累继发于不受控制的青光眼，但是，很少,可发生缺血性视神经病变。在此病例报告中，我们描述了一名患者，该患者表现为双侧进行性视力丧失和视野狭窄。眼底检查显示两个视盘都有强烈的苍白，界限不清，似乎被渗透了。眼底自发荧光和增强深度成像光学相干断层扫描排除了视盘玻璃疣的存在。轨道磁共振成像排除了任何轨道压迫的迹象，视神经的炎症或浸润。讨论了小血管淀粉样蛋白浸润的机制以及视神经乳头中淀粉样蛋白可能对血管的压迫。
