A Novel Transthyretin Variant (p.Phe-84-Tyr) for Hereditary Transthyretin Amyloidosis with Polyneuropathy and Early Ocular Findings

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.