Ocular Involvement in Hereditary Amyloidosis |oneAMYLOIDOSISvoice
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Ocular Involvement in Hereditary Amyloidosis

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source: Genes

year: 2021

authors: Angelo Maria Minnella, Roberta Rissotto, Elena Antoniazzi, Marco Di Girolamo, Marco Luigetti, et al.

summary/abstract:

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 to the deposition of transthyretin (TTR), which is a transport protein mainly synthesized in the liver but also in the retinal pigment epithelial cells. ATTRv amyloidosis may be misdiagnosed with several other conditions, resulting in a significant diagnostic delay. Gelsolin and keratoepithelin are other proteins that, when mutated, are responsible for a systemic amyloid disease with significant ocular manifestations that not infrequently appear before systemic involvement.

 

organization: Università Cattolica del Sacro Cuore, Italy; Fondazione Policlinico Universitario, Italy; University of Milan, Italy; Institute of Ophthalmolgy, Italy; San Giovanni Calibita Hospital, Italy; Università Cattolica del Sacro Cuore, Italy; University of Florence, Italy; Amyloidosis Research and Treatment Centre, Italy

DOI: 10.3390/genes12070955

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