Maceroni Martina, Falsini Benedetto, Luigetti Marco, Romano Angela, Guglielmino Valeria, Fasciani Romina, Placidi Giorgio, D'Agostino Elena, Sasso Paola, Rizzo Stanislao, Minnella Angelo Maria
Institute of Ophthalmology, Università Cattolica del Sacro Cuore, 00135 Rome, Italy.
Fondazione Policlinico Universitario A. Gemelli-IRCCS, 00135 Rome, Italy.
Diagnostics (Basel). 2023 Jan 18;13(3):359. doi: 10.3390/diagnostics13030359.
The present study aimed to investigate ocular findings in hereditary transthyretin amyloidosis (ATTRv) pre-symptomatic carriers. Fourteen ATTRv pre-symptomatic carriers, who are patients with positive genetic testing but without signs or symptoms of the disease, were retrospectively evaluated. Retinal morphology was assessed using optical coherence tomography (OCT) and OCT-angiography. Retinal function was evaluated using cone b-wave and photopic negative response (PhNR). Pupillometry and in vivo corneal confocal microscopy (IVCM) were performed. ATTRv pre-symptomatic carriers presented a significantly reduced central macular thickness (CMT) ( = 0.01) and outer nuclear layer (ONL) thickness ( = 0.01) in comparison to normal controls. No differences were found when analyzing sub-foveal choroidal thickness, retinal nerve fiber layer and ganglion cell complex. In comparison to healthy controls, pre-symptomatic carriers presented an attenuated superficial retinal vascular network and a significantly augmented PhNR amplitude ( = 0.01). However, PhNR implicit times, B-wave amplitude and B-wave peak time did not show significant differences in comparison to controls. No differences were found for pupillometric values. All the examined eyes presented alterations in the IVCM. Preclinical ocular structural and functional abnormalities can be found in ATTRv pre-symptomatic carriers. Thus, an extensive ophthalmological evaluation should be included at the baseline visit and during follow-up. Considering the availability of new drugs potentially able to prevent or delay disease progression, the identification of new disease biomarkers appears to be particularly promising.
本研究旨在调查遗传性转甲状腺素蛋白淀粉样变性（ATTRv）症状前携带者的眼部表现。对14名ATTRv症状前携带者进行了回顾性评估，这些携带者基因检测呈阳性，但尚无该疾病的体征或症状。使用光学相干断层扫描（OCT）和OCT血管造影评估视网膜形态。使用视锥细胞b波和明视负反应（PhNR）评估视网膜功能。进行了瞳孔测量和体内角膜共焦显微镜检查（IVCM）。与正常对照组相比，ATTRv症状前携带者的中心黄斑厚度（CMT）（ = 0.01）和外核层（ONL）厚度（ = 0.01）显著降低。分析黄斑下脉络膜厚度、视网膜神经纤维层和神经节细胞复合体时未发现差异。与健康对照组相比，症状前携带者的视网膜浅层血管网络减弱，PhNR振幅显著增加（ = 0.01）。然而，与对照组相比，PhNR隐含时间、B波振幅和B波峰值时间没有显著差异。瞳孔测量值未发现差异。所有检查的眼睛在IVCM中均呈现改变。在ATTRv症状前携带者中可发现临床前眼部结构和功能异常。因此，在基线访视和随访期间应进行全面的眼科评估。考虑到可能有新药能够预防或延缓疾病进展，识别新的疾病生物标志物似乎特别有前景。
