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Amyloidosis and Ocular Involvement: an Overview.

Rosanna Dammacco1, Giampaolo Merlini2,3, Walter Lisch4

  • 1Department of Ophthalmology and Neuroscience, University of Bari "Aldo Moro", Medical School, Bari, Italy.

Seminars in Ophthalmology
|December 13, 2019
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Summary

Ophthalmic manifestations of amyloidosis affect 23% of patients, with treatments varying by amyloid type. Routine eye exams are crucial for early detection and management of ocular amyloidosis.

Keywords:
Amyloidosisgelsolinkeratoepithelinlactoferrintransthyretin

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Area of Science:

  • Ophthalmology
  • Internal Medicine
  • Genetics

Background:

  • Amyloidosis is a systemic disease characterized by the deposition of misfolded proteins in various organs.
  • Ocular involvement in amyloidosis can lead to significant visual impairment and requires specialized management.
  • Different types of amyloidosis have distinct clinical presentations and ophthalmic manifestations.

Purpose of the Study:

  • To detail the spectrum of ophthalmic manifestations associated with various types of amyloidosis.
  • To outline the corresponding therapeutic strategies for ocular amyloidosis.
  • To emphasize the importance of multidisciplinary collaboration in managing patients with amyloidosis.

Main Methods:

  • Retrospective analysis of 178 patients diagnosed with different types of amyloidosis.
  • Inclusion of clinical data and images from collaborative studies with international ophthalmology departments.
  • Review of specific amyloid types including AL, AA, transthyretin, gelsolin, keratoepithelin, and lactoferrin-related amyloidosis.

Main Results:

  • Ocular morbidity was observed in 23% (41/178) of patients with amyloidosis.
  • Specific treatments include chemotherapy and surgery for AL amyloidosis, management of underlying conditions for AA amyloidosis, and surgical interventions like pars plana vitrectomy or keratoplasty for transthyretin, gelsolin, keratoepithelin, and lactoferrin amyloidosis.
  • Corneal transplantation for keratoepithelin amyloidosis has a guarded prognosis due to potential recurrence.

Conclusions:

  • Routine ophthalmic follow-up is essential for all patients with suspected or confirmed amyloidosis.
  • Early and accurate diagnosis of ocular involvement facilitates effective multidisciplinary management.
  • Collaboration between ophthalmologists and internists is key to optimizing patient care.