A Novel Transthyretin Variant (p.Phe-84-Tyr) for Hereditary Transthyretin Amyloidosis with Polyneuropathy and Early Ocular Findings
Karla Cárdenas-Soto, Alechka Arumir-Lira, Alejandra Gonzalez-Duarte, Rivera-De La Parra David, Pablo Hernandez Reyes
Hereditary transthyretin amyloidosis (hATTR) is a rare disease that affects multiple systems and is
triggered by a mutation in the transthyretin (TTR) gene. This report introduces a new pathogenic
variant, Phe84Tyr, identified in a patient with no known family history of amyloidosis. The patient
exhibited polyneuropathy, cardiomyopathy, and significant ocular involvement, potentially a unique
characteristic of this variant.
