Department of Ophthalmology, School of Medicine, Shinshu University, Nagano, Japan.
Retina. 2022 Jan 1;42(1):210-215. doi: 10.1097/IAE.0000000000003291.
To investigate ocular angiographic features of hereditary transthyretin amyloidosis with transthyretin Val30Met mutation (hATTR-V30M) in Japanese patients.
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.
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 (ρ = 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.
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.
研究日本遗传性转甲状腺素蛋白淀粉样变性伴转甲状腺素蛋白 Val30Met 突变（hATTR-V30M）患者的眼部血管造影特征。
我们回顾性分析了 2012 年至 2018 年间接受荧光素血管造影和吲哚菁绿血管造影的 51 例 hATTR-V30M 患者的 102 只眼。评估了系统严重程度评分、荧光素血管造影、吲哚菁绿血管造影、最终血管造影时的眼部淀粉样变性表现以及随后的新生血管事件。主要结局是脉络膜淀粉样血管病变和视网膜淀粉样血管病变（RAA）的发生频率。次要结局是它们与系统严重程度评分的相关性。
由于玻璃体混浊，有 6 只眼无法进行荧光素血管造影评估。在 96 只可评估的眼中，有 36 只（37.5%）出现 RAA。未发现新生血管。吲哚菁绿血管造影显示 51 例患者中的 46 例（90.2%）存在脉络膜淀粉样血管病变，根据晚期强荧光表现呈现出弥漫性（n = 6）、局灶性（n = 14）和点状（n = 26）等不同模式。视网膜淀粉样血管病变和脉络膜淀粉样血管病变的分级与系统严重程度相关（ρ = 0.57 和 0.50，均 P < 0.05）。在 35.4 ± 28.4（0-96）个月时，1 只眼出现虹膜新生血管，2 只眼出现玻璃体积血。
RAA 较少见，脉络膜淀粉样血管病变较常见，其严重程度与系统严重程度评分相关。本研究中 RAA 和随后发生新生血管事件的频率可能表明 hATTR-V30M 眼部血管造影特征存在区域性差异。
