• Angela Romano, Valeria Guglielmino, Andrea Di Paolantonio, Giulia Bisogni, Mario Sabatelli, Giacomo Della Marca, Angelo Maria Minnella, Martina Maceroni, Simone Bellavia, Irene Scala, Eleonora Sabatelli, Eleonora Rollo, and Marco Luigetti.
• UOC Neurologia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
• Amyloid. 2022 Dec 1; 29 (4): 270275270-275.

IntroductionHereditary transthyretin amyloidosis (ATTRv) is a treatable multisystemic disease with great phenotypic heterogeneity. Among extra-neurological features, pupillary abnormalities have been reported, either related to amyloid deposition in the eye or to a progressive autonomic neuropathy.ObjectiveTo evaluate the role of automated pupillometry, a non-invasive and rapid test able to provide objective and reproducible data on pupil size and reactivity, as a marker of disease severity in late-onset ATTRv patients.Patients And MethodsWe performed automated pupillometry on a cohort of ATTRv patients and pre-symptomatic TTR mutation carriers and compared results to healthy controls. An exhaustive clinical and instrumental evaluation was performed on all enrolled subjects.ResultsA statistically significant difference in most pupillometry parameters was found in ATTRv patients as compared to both carriers and healthy controls. Moreover, in ATTRv patients, we found a significant correlation between many pupillometry findings and disease duration, as well as widely accepted clinical scales and investigations (NIS, Sudoscan from feet, and Norfolk QoL-DN questionnaire).ConclusionsWe suggest pupillometry may play a role as a reliable and non-invasive biomarker to evaluate ATTRv disease severity and monitor its progression.

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