Article
Ocular Involvement in Hereditary Amyloidosis.
Genes - 22 Jun 2021
Minnella Angelo Maria, Rissotto Roberta, Antoniazzi Elena, Di Girolamo Marco, Luigetti Marco, Maceroni Martina, Bacherini Daniela, Falsini Benedetto, Rizzo Stanislao, Obici Laura
Abstract excerpt
The term amyloidosis describes a group of rare diseases caused by protein conformation abnormalities resulting in extracellular deposition and accumulation of insoluble fibrillar aggregates. So far, 36 amyloid precursor proteins have been identified, and each one is responsible for a specific disease entity. Transthyretin amyloidosis (ATTRv) is one of the most common forms of systemic and ocular amyloidosis, due...
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