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Ocular Involvement in Hereditary Amyloidosis.

Angelo Maria Minnella1,2, Roberta Rissotto3, Elena Antoniazzi4

  • 1Dipartimento Universitario Testa-Collo Rgani di Senso, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.

Genes
|July 2, 2021
PubMed
Summary

Amyloidosis involves protein buildup causing rare diseases, often affecting the eyes. Early diagnosis and treatment are crucial for managing sight-threatening complications from amyloid deposition.

Keywords:
ATTRamyloidamyloidosiscorneal lattice dystrophygelsolinkeratoepithelinocular amyloidosispersonalized medicinetransthyretinvitrectomyvitreous opacities

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Area of Science:

  • Ophthalmology
  • Genetics
  • Pathology

Background:

  • Amyloidosis comprises rare diseases characterized by abnormal protein deposits.
  • Transthyretin amyloidosis (ATTRv) is a common systemic and ocular form.
  • Mutations in gelsolin and keratoepithelin also cause amyloidosis with ocular signs.

Purpose of the Study:

  • To review biochemical, histopathological, and clinical features of systemic amyloidosis with ocular involvement.
  • To emphasize inherited forms of amyloidosis.
  • To discuss current treatments and ophthalmologic management for ocular amyloidosis.

Main Methods:

  • Literature review of systemic amyloidosis with ocular manifestations.
  • Focus on inherited forms, clinical presentation, and diagnostic challenges.
  • Analysis of treatment strategies and ophthalmic management.

Main Results:

  • Ocular amyloid deposition occurs in the cornea, irido-corneal angle, and vitreous.
  • Ocular complications include vasculopathy and neuropathy.
  • Diagnostic delays are common due to misdiagnosis.

Conclusions:

  • Prompt diagnosis and treatment are vital for preventing sight-threatening complications.
  • Ophthalmologic management is key in addressing ocular amyloidosis.
  • Understanding inherited forms is crucial for effective patient care.