Abstract

Background

Retinal angiopathy is a known ocular manifestation of hereditary transthyretin amyloidosis (ATTRv). Optical coherence tomography angiography (OCT-A) is a recent noninvasive imaging technique, used in other retinal vascular diseases. Our purpose was to analyse subclinical changes in retinal vessels, with OCT-A, in patients with ATTRv amyloidosis.

Methods

Observational cross-sectional study in Centro Hospitalar e Universitário do Porto in the cohort of patients with genetic diagnosis of ATTRv. Patients were included if they had just one eye with scalloped iris (the other eye without scalloped iris), postulating eyes were at different stages, in the same patient. Patients were excluded if they had other manifestations of ocular ATTRv amyloidosis, namely clinical retinal angiopathy and/or vitreous opacities. The group of eyes with scalloped iris were compared with eyes without scalloped iris, using paired tests. Values are shown as Δ = mean difference between groups; p = p-value, d = Cohen’s d for effect size measurement.

Results

Twenty-four patients (24 eyes in each group) were included. Mean age was 46.5 ± 5.0 years. Eyes with scalloped iris showed attenuated retinal vascular network: larger foveal avascular zone (FAZ) area (Δ = +0.02 mm², p = 0.002, d = 0.70); decreased foveal vascular density (Δ = –3.57%, p = 0.001, d = –0.75); superficial (Δ = –1.50%, p = 0.049, d = –0.43) and deep (Δ = –2.53%, p = 0.023, d = –0.50) plexus vascular density. Acircularity index was superior in scalloped iris eyes (Δ = 0.04, p = 0.004, d = –0.65), representing an abnormal FAZ morphology.

Conclusion

Scalloped iris in ATTRv eyes are associated with a more advanced subclinical retinal angiopathy, than eyes without scalloped iris. Our results identify for the first time and in vivo, early changes in retinal vessels in ATTRv amyloidosis. Henceforward, OCT-A may play a role in the evaluation of ATTRv patients oculopathy and the effectiveness of future eye targeting treatments.

中文翻译：

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与遗传性转甲状腺素蛋白淀粉样变性相关的亚临床视网膜血管病——用光学相干断层扫描血管造影评估

摘要

背景

视网膜血管病是遗传性转甲状腺素蛋白淀粉样变性 (ATTRv) 的已知眼部表现。光学相干断层扫描血管造影 (OCT-A) 是一种最近的无创成像技术，用于其他视网膜血管疾病。我们的目的是用 OCT-A 分析 ATTRv 淀粉样变性患者视网膜血管的亚临床变化。

方法

Centro Hospitalar e Universitário do Porto在 ATTRv 基因诊断患者队列中的观察性横断面研究。如果患者只有一只眼睛有扇形虹膜（另一只眼睛没有扇形虹膜），假设眼睛处于同一患者的不同阶段，则被纳入。如果患者有其他眼部 ATTRv 淀粉样变性表现，即临床视网膜血管病和/或玻璃体混浊，则被排除在外。使用配对测试将具有扇形虹膜的眼睛组与没有扇形虹膜的眼睛进行比较。值显示为 Δ = 组间平均差；p  =  p 值，d = Cohen's d，用于测量效果大小。

结果

包括24名患者（每组24只眼）。平均年龄为 46.5 ± 5.0 岁。具有扇形虹膜的眼睛显示视网膜血管网络减弱：中心凹无血管区（FAZ）面积较大（Δ = +0.02 mm ²，p  = 0.002，d  = 0.70）；中心凹血管密度降低（Δ = –3.57%，p  = 0.001，d  = –0.75）；浅表 (Δ = –1.50%, p  = 0.049, d = –0.43) 和深 (Δ = –2.53%, p  = 0.023, d = –0.50) 丛血管密度。扇形虹膜眼的非圆度指数较高（Δ = 0.04，p  = 0.004，d = –0.65），代表 FAZ 形态异常。

结论

与没有扇形虹膜的眼睛相比，ATTRv 眼睛中的扇形虹膜与更晚期的亚临床视网膜血管病相关。我们的结果首次在体内确定了ATTRv 淀粉样变性视网膜血管的早期变化。今后，OCT-A 可能在评估 ATTRv 患者眼病和未来眼部靶向治疗的有效性方面发挥作用。