Vitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.
Alan Baltazar Treviño-HerreraAna Patricia Bustamante-VargasAndrés Lisker CervantesDolores Ríos Y Valles-VallesCristina Villanueva-MendozaAlejandra González-DuarteLuz Elena Concha-Del-RíoPublished in: Ophthalmic genetics (2022)
The present report describes a patient with ATTRv amyloidosis with initial vitreous involvement and the pathogenic variant Ile107Met (p.Ile127Met). It is important to consider vitreous amyloidosis as part of the non-malignant, non-infectious uveitis masquerade syndromes.