Lin H Y, Dai R P
Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
Zhonghua Yan Ke Za Zhi. 2017 Oct 11;53(10):783-785. doi: 10.3760/cma.j.issn.0412-4081.2017.10.014.
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. .
转甲状腺素蛋白（TTR）相关的家族性淀粉样多神经病（FAP）由突变型TTR引起，是一种罕见但致命的常染色体显性疾病。TTR由肝脏（95%）、脑脉络丛和视网膜色素上皮合成。FAP会导致周围神经病变，主要眼部表现为玻璃体混浊（淡黄色棉絮状）、继发性青光眼和干燥性角结膜炎。肝移植已被证明是治疗TTR-FAP最有效的方法。目前，氯苯唑酸是唯一被批准用于治疗TTR-FAP（早期）的药物。然而，肝移植和氯苯唑酸都无法阻止眼部病变的进展。全视网膜光凝可能会损伤视网膜色素上皮，从而阻止病情进展。本文综述了近期关于TTR-FAP及其眼部病变的研究。
