玻璃体淀粉样变性作为葡萄牙一名携带TTR Val30Met突变的家族性淀粉样多神经病患者的首发症状
Vitreous Amyloidosis as the Presenting Symptom of Familial Amyloid Polyneuropathy TTR Val30Met in a Portuguese Patient.
作者信息
Seca Mariana, Ferreira Natália, Coelho Teresa
机构信息
Ophthalmology Department, Centro Hospitalar do Porto, Porto, Portugal.
Familial Amyloid Polyneuropathy Clinical Unit, Centro Hospitalar do Porto, Porto, Portugal ; Neurophysiology Department, Hospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.
出版信息
Case Rep Ophthalmol. 2014 Mar 15;5(1):92-7. doi: 10.1159/000360790. eCollection 2014 Jan.
Familial amyloid polyneuropathy (FAP) is a group of disorders characterized by the extracellular deposition of amyloid substance in various tissues. The peripheral nervous system and the heart are the main target organs, but the eye may also be involved. We report a case of vitreous amyloidosis as the first manifestation of FAP in a 66-year-old Portuguese man without a family history.
家族性淀粉样多神经病（FAP）是一组以淀粉样物质在各种组织细胞外沉积为特征的疾病。周围神经系统和心脏是主要靶器官，但眼睛也可能受累。我们报告了一例66岁无家族病史的葡萄牙男性，其玻璃体液淀粉样变性作为FAP的首发表现。
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