A Novel Transthyretin Variant (p.Phe-84-Tyr) for Hereditary Transthyretin Amyloidosis with Polyneuropathy and Early Ocular Findings
DOI:
https://doi.org/10.33425/2693-1516.1042Keywords:
Hereditary amyloidosis, Transthyretin familial amyloid polyneuropathAbstract
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.
