Department of Ophthalmology, Samsung Medical Center, School of Medicine, Sungkyunkwan University Seoul, Republic of Korea.
Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, School of Medicine, Sungkyunkwan University, Seoul, Republic of Korea.
Retina. 2022 Feb 1;42(2):396-403. doi: 10.1097/IAE.0000000000003296.
To describe the ophthalmic manifestations of familial transthyretin amyloidosis (FTA) mutations, including Asp38Ala and Thr59Lys, which have not been previously reported to have ocular involvement.
This is an observational case series of prospectively collected data of 16 patients with FTA who were taking tafamidis for mild peripheral neuropathy and underwent a comprehensive ophthalmic examination at a single tertiary center, between January 2013 and March 2020. The ocular involvement of each FTA mutation type and the specific manifestations were the main outcome measures.
Six of 16 patients with FTA manifested ocular involvement. Ocular involvement was noted in two of three patients with Glu89Lys mutations having retinal deposits, retinal hemorrhages, and corneal opacity. Three of nine patients with Asp38Ala mutations and one of two patients with Thr59Lys mutations showed ocular involvement that had not been previously described. The ophthalmic findings included glaucoma, anterior lens capsule opacity, vitreous opacity, and retinal deposits. The decrease in vascular flow due to perivascular cuffing of the amyloid deposits was detected by optical coherence tomography angiography.
The current study newly described that two transthyretin mutation types of FTA, Asp38Ala and Thr59Lys, may manifest with ocular findings such as anterior lens capsule opacity and retinal deposits.
描述家族性转甲状腺素蛋白淀粉样变性（FTA）突变体，包括 Asp38Ala 和 Thr59Lys 的眼部表现，这两种突变此前尚未报道有眼部受累。
这是一项前瞻性收集数据的观察性病例系列研究，纳入了 16 名接受他法米汀治疗轻度周围神经病的 FTA 患者，这些患者于 2013 年 1 月至 2020 年 3 月在一家三级中心接受了全面的眼科检查。主要观察指标为每种 FTA 突变类型的眼部受累情况和具体表现。
16 名 FTA 患者中有 6 名出现眼部受累。3 名 Glu89Lys 突变患者中有 2 名出现视网膜沉积物、视网膜出血和角膜混浊，2 名中有眼部受累。9 名 Asp38Ala 突变患者中有 3 名和 2 名 Thr59Lys 突变患者中有 1 名出现了以前未描述的眼部受累。眼部表现包括青光眼、前晶状体囊混浊、玻璃体混浊和视网膜沉积物。光学相干断层扫描血管造影显示，由于淀粉样沉积物的血管周围袖套，血管血流减少。
本研究新描述了两种 FTA 转甲状腺素蛋白突变类型，Asp38Ala 和 Thr59Lys，可能表现为前晶状体囊混浊和视网膜沉积物等眼部表现。
