Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2022
Pupillometric findings in ATTRv patients and carriers: results from a single-centre experience.
СтатьяНазвание и аннотация: Перевод в очереди
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Romano Angela, Guglielmino Valeria, Di Paolantonio Andrea, Bisogni Giulia, Sabatelli Mario, Della Marca Giacomo, Minnella Angelo Maria, Maceroni Martina, Bellavia Simone, Scala Irene, Sabatelli Eleonora, Rollo Eleonora, Luigetti Marco
Аннотация
INTRODUCTION: Hereditary 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.
OBJECTIVE: To 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 METHODS: We 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.
RESULTS: A 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).
CONCLUSIONS: We suggest pupillometry may play a role as a reliable and non-invasive biomarker to evaluate ATTRv disease severity and monitor its progression.
OBJECTIVE: To 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 METHODS: We 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.
RESULTS: A 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).
CONCLUSIONS: We suggest pupillometry may play a role as a reliable and non-invasive biomarker to evaluate ATTRv disease severity and monitor its progression.