Ocular Involvement in Hereditary Amyloidosis

Angelo Maria Minnella, Martina Maceroni, Stanislao Rizzo, Marco Luigetti, Benedetto Falsini, Roberta Rissotto, Elena Antoniazzi, Marco Di Girolamo, Daniela Bacherini, Laura Obici

Research output: Contribution to journalArticle

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. The main signs of ocular amyloid deposition are in the cornea, irido-corneal angle and vitreous, causing complications related to vasculopathy and neuropathy at the local level. This review aims at describing the main biochemical, histopathological and clinical features of systemic amyloidosis associated with eye involvement, with particular emphasis on the inherited forms. We discuss currently available treatments, focusing on ocular involvement and specific ophthalmologic management and highlighting the importance of a prompt treatment for the potential sight-threatening complications derived from amyloid deposition in ocular tissues.
Original languageEnglish
Pages (from-to)1-26
Number of pages26
JournalGenes
Volume12
DOIs
Publication statusPublished - 2021

Keywords

  • ATTR
  • Amyloid Neuropathies, Familial
  • Amyloidosis, Familial
  • Gelsolin
  • amyloid
  • amyloidosis
  • corneal lattice dystrophy
  • gelsolin
  • keratoepithelin
  • ocular amyloidosis
  • personalized medicine
  • transthyretin
  • vitrectomy
  • vitreous opacities

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