Ocular decompression retinopathy following trabeculectomy with mitomycin C associated with familial amyloidotic polyneuropathy
Ocular decompression retinopathy following trabeculectomy with mitomycin C associated with familial amyloidotic polyneuropathy
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DOI：
10.1136/bjo.2005.082735
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发表时间：
2006-04-01
影响因子：
4.1
通讯作者：
Ando, Y
中科院分区：
文献类型：
--
作者：
Wakita, M;Kawaji, T;Ando, Y
家族性淀粉样变性多发性神经病(FAP)是一种常染色体显性遗传的疾病，其特征是周围神经和器官中聚合的突变淀粉样变性TTR(ATTR)的全身性积聚。1我们报告两例FAP ATTRY114C(由酪氨酸突变为半胱氨酸的第114位密码子)患者，在单纯小梁切除联合丝裂霉素C(MMC)治疗后立即发生弥漫性视网膜出血。
Familial amyloidotic polyneuropathy (FAP), a disorder inherited in autosomal dominant fashion, is characterised by systemic accumulation of polymerised mutated amyloidogenic TTR (ATTR) in peripheral nerves and in organs. 1 We report two patients with FAP ATTR Y114C (a point mutation, from tyrosine to cysteine, at codon 114) who developed diffuse retinal haemorrhages immediately after uncomplicated trabeculectomy with mitomycin C (MMC).