家族性淀粉样变性多发神经病的眼部表现  

Ocular manifestations of familial amyloidosis polyneuropathy

作　　者：赖婕[1] 张瑜[1] 王庆平[1] 

机构地区：[1]复旦大学附属华山医院眼科,上海200031

出　　处：《国际眼科纵览》2016年第1期23-26,共4页International Review of Ophthalmology

摘　　要：家族性淀粉样变性多发神经病是一种危及生命的多系统受累的常染色体显性遗传病,转甲状腺素蛋白（transthyretin,TTR）基因突变（Va130Met突变）是最常见的类型.通常导致长度依赖性周围神经病变,在随后大概十年内发生植物神经功能障碍导致恶病质和死亡.组织活检见刚果红亲和性染色且在偏振光下呈现黄绿色双折射的特性.累及眼部时,淀粉样物质沉积于眼的瞳孔缘、小梁网、玻璃体,引起继发性青光眼和玻璃体混浊.玻璃体混浊通过玻璃体切除术可以明显提高患眼视力,但术后有复发的风险;继发性青光眼通过小梁切除术加丝裂霉素浸润以控制眼压.高危的家庭成员应进行基因检测,DNA检测提供了无症状的预测诊断.Familial amyloid polyneuropathies （FAP） are a group of life-threatening multisystem disorders transmitted as an autosomal dominant trait,and the TTR Val30Met mutation is the most common type.TIR FAP typically causes a nerve length-dependent polyneuropathy,along with autonomic dysfunction leading to cachexia and death within 10 years on average.Tissue biopsy was seen in Congo red affinity staining with a characteristic yellow-green birefringence under polarised light.The disease can be involved in the eyes,amyloid deposition in the pupil,trabecular,vitreous,causing secondary glaucoma and vitreous opacity.Vitrectomy can significantly improve the visual acuity of patients with vitreous opacity,with the risk of recurrence after surgery.A secondary glaucoma trabeculectomy with mitomycin infiltration is operated to control of intraocular pressure.High risk family members should carry out genetic testing,DNA testing provides predictive diagnosis for those without any symptom.

关 键 词：家族性淀粉样变性多发神经病 转甲状腺素蛋白基因 玻璃体混浊 继发性青光眼 

分 类 号：R587.2[医药卫生—内分泌]