OCULAR ANGIOGRAPHIC FEATURES IN JAPANESE PATIENTS WITH VAL30MET HEREDITARY TRANSTHYRETIN AMYLOIDOSIS
OCULAR ANGIOGRAPHIC FEATURES IN JAPANESE PATIENTS WITH VAL30MET HEREDITARY TRANSTHYRETIN AMYLOIDOSIS
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DOI：
10.1097/iae.0000000000003291
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发表时间：
2022-01-01
影响因子：
3.3
通讯作者：
Murata, Toshinori
中科院分区：
文献类型：
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作者：
Kakihara, Shinji;Hirano, Takao;Murata, Toshinori
目的：探讨日本遗传性转甲状腺素V30Met突变患者的眼部血管造影特点。方法：回顾分析2012~2018年间接受荧光素血管造影和吲哚青绿血管造影的51例(102只眼)遗传性转甲状腺视黄素V30M患者的眼部血管造影特征。对最终血管造影时的全身严重程度评分、荧光素血管造影术、吲哚青绿血管造影术和眼淀粉样变性表现以及随后的新生血管事件进行评估。主要结果是脉络膜淀粉样血管病和视网膜淀粉样血管病(RAA)的发生率。次要结果是其与全身严重程度评分的相关性。结果：6只眼因玻璃体混浊而无法通过荧光素血管造影进行评估。在评估的96只眼中，36只眼(37.5%)检出RAA。未检测到新生血管。吲哚青绿血管造影显示脉络膜淀粉样脉络膜血管病变46例(90.2%)，表现为弥漫型(n=6)、局灶型(n=14)和点状(n=26)。视网膜淀粉样血管病变和脉络膜淀粉样血管病变分级与全身严重程度相关(Rho分别为0.57和0.50；P<；0.05)。术后35.4+/-28.4(0~96)个月，1只眼出现虹膜红斑，2只眼玻璃体出血。结论：视网膜淀粉样血管病较少见，脉络膜淀粉样血管病较常见，其严重程度与全身严重程度评分相关。在这项研究中，RAA和随后的新生血管事件的频率可能表明hATTR-V30M的眼部血管造影特征的地区差异。
Purpose: To investigate ocular angiographic features of hereditary transthyretin amyloidosis with transthyretin Val30Met mutation (hATTR-V30M) in Japanese patients.Methods: We retrospectively reviewed 102 eyes of 51 patients with hATTR-V30M who underwent fluorescein angiograms and indocyanine green angiograms between 2012 and 2018. Systemic severity score, fluorescein angiograms, indocyanine green angiograms, and ocular amyloidosis presentations at the final angiograms and subsequent neovascular events were evaluated. Primary outcomes were the frequency of choroidal amyloid angiopathy and retinal amyloid angiopathy (RAA). Secondary outcomes were their correlations to the systemic severity score.Results: Six eyes could not be evaluated by fluorescein angiogram because of vitreous opacity. Of 96 eyes evaluated, RAA was detected in 36 (37.5%). Neovascularization was not detected. Indocyanine green angiogram indicated choroidal amyloid angiopathy in 46/51 patients (90.2%), with distinct patterns-diffuse (n = 6), focal (n = 14), and punctiform (n = 26)-based on late-phase hypercyanescence. Retinal amyloid angiopathy and choroidal amyloid angiopathy grades were associated with systemic severity (rho = 0.57 and 0.50, respectively; both P < 0.05). At 35.4 +/- 28.4 (0-96) months, iris-rubeosis was observed in one eye and vitreous hemorrhage in two.Conclusion: Retinal amyloid angiopathy was less common and choroidal amyloid angiopathy was frequent, and their severity correlated with the systemic severity score. The frequencies of RAA and subsequent neovascular events in this study may suggest regional differences in the ocular angiographic features of hATTR-V30M.