Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers
- Angelo Maria Minnella
- Roberta Rissotto
- Martina Maceroni
- Angela Romano
- Romina Fasciani
- Marco Luigetti
- Mario Sabatelli
- Stanislao Rizzo
- Benedetto Falsini
DOIAbstract
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 are due to both the hepatic and ocular production of mutated TTR. In this case series, we report the ocular manifestations of hATTR in eighteen eyes of nine consecutive patients. Corneal nerve abnormalities as well as morphological and functional changes in the retina were investigated. The study was a single-center, retrospective, observational, clinical case series. In all patients, corneal confocal microscopy (CCM), multimodal imaging of the ret...
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