Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers

Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers

Hereditary transthyretin amyloidosis (hATTR) is a rare disease caused by a point mutation in the transthyretin (TTR) gene and inherited in an autosomal dominant fashion. TTR is a plasma protein that functions as a carrier for thyroxine (T4) and retinol (vitamin A). Ophthalmological manifestations ar...

Full description

Bibliographic Details
Main Authors: Angelo Maria Minnella, Roberta Rissotto, Martina Maceroni, Angela Romano, Romina Fasciani, Marco Luigetti, Mario Sabatelli, Stanislao Rizzo, Benedetto Falsini
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
hereditary transthyretin amyloidosis (hATTR)
transthyretin (TTR)
corneal confocal microscopy (CCM)
electroretinogram (ERG)
Optical Coherence Tomography (OCT)
ocular biomarkers
Online Access:https://www.mdpi.com/2073-4425/12/6/927

Internet

https://www.mdpi.com/2073-4425/12/6/927

Similar Items