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  • Title: [The ocular involvement in the transthyretin-related familial amyloid polyneuropathy].
    Author: Lin HY, Dai RP.
    Journal: Zhonghua Yan Ke Za Zhi; 2017 Oct 11; 53(10):783-785. PubMed ID: 29050191.
    Abstract:
    Transthyretin (TTR)-related familial amyloid polyneuropathy (FAP), which is caused by mutant TTR, is a rare but fatal autosomal dominant disease. TTR is synthesized by the liver (95%) , the choroid plexus of the brain and the retinal pigment epithelium. FAP leads to peripheral neuropathy, and the main ocular manifestations are vitreous opacity (yellowish cotton-like), secondary glaucoma and keratoconjunctivitis sicca. Liver transplantation has proven to be the most effective treatment for TTR-FAP. Nowadays, tafamidis is the only drug approved for TTR-FAP (early stage). However, neither liver transplantation nor tafamidis is capable to halt the progression of ocular involvement. Panretinal photocoagulation could damage the retinal pigment epithelium, and thus prevent the progression. Recent investigations on TTR-FAP and its ocular involvement are reviewed in this article. (Chin J Ophthalmol, 2017, 53: 783-785). 转甲状腺素蛋白（TTR）相关的家族性淀粉样多神经病变是一种由TTR基因变异引起的严重危害生命的常染色体显性遗传病，临床较为罕见。TTR主要由肝脏产生，小部分由脑部的脉络丛及眼部的视网膜色素上皮细胞产生。病变主要累及周围神经系统，眼部受累最显著的表现为黄白色棉绒样团块状或片状玻璃体混浊，常合并继发性青光眼、干眼。肝移植手术是目前最有效的治疗方法，口服药物Tafamidis可用于疾病的早期治疗。但肝移植手术及药物无法治疗眼部病变，全视网膜激光光凝是通过破坏视网膜色素上皮细胞而控制眼部病变的发展。本文总结近年有关家族性淀粉样多神经病变及其眼部诊疗的研究和资料，以供临床参考。（中华眼科杂志，2017，53：783-785）.
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