September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Clinicopathologic and Proteomic Analysis of Amyloid Deposition in Ocular Surface and Adnexa
Author Affiliations & Notes
  • Maria Jose Suarez B
    Pathology, Johns Hopkins University, Baltimore, Maryland, United States
  • Jonathan Levi
    National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, Maryland, United States
  • Roxana Rivera-Michlig
    Ophthalmology, Wilmer Eye Institute, Baltimore, Maryland, United States
  • Avi Rosenberg
    Children’s National Health System, Washington, District of Columbia, United States
  • Fausto Rodriguez
    Pathology, Johns Hopkins University, Baltimore, Maryland, United States
  • Footnotes
    Commercial Relationships   Maria Suarez B, None; Jonathan Levi, None; Roxana Rivera-Michlig, None; Avi Rosenberg, None; Fausto Rodriguez, None
  • Footnotes
    Support  Research to prevent blindness
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 2429. doi:
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      Maria Jose Suarez B, Jonathan Levi, Roxana Rivera-Michlig, Avi Rosenberg, Fausto Rodriguez; Clinicopathologic and Proteomic Analysis of Amyloid Deposition in Ocular Surface and Adnexa. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2429.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To describe the clinicopathologic features, as well as proteomic characterization, of amyloid deposition seen in the ocular surface and/or adnexa biopsy specimens.

Methods : This is a retrospective study in which the medical records from patients that were diagnosed with primary and secondary ocular and orbital amyloid deposition at our institution were retrieved between 1991-2014. The demographic data, clinical findings and pathology reports were also reviewed. Proteomic analysis was performed in five cases using immunohistochemistry (IgG, IgG4, IgA, IgD, IgM, CD20, CD3, CD138, and kappa/lambda), as well as mass spectrometry-based proteomic analysis using formalin-fixed paraffin-embedded tissue.

Results : The study included 9 patients (5 females, 4 males). The mean age was 59.1 years (range 39 – 88 years). Four cases involved the conjunctiva, three cases the eyelid and two cases presented as orbital masses, one of them with ptosis. Congo red stain was positive in eight cases; one case was equivocal but moderately positive for Thioflavine T. In general, the cases presented with superficial and periadnexal chronic inflammation characterized mostly by CD3 positive T cells, rare CD20 positive B cells, and rare CD138 positive plasma cells. Immunohistochemistry revealed the amyloid deposits to be strongly positive for IgG (n=5), IgG4 (weak/focal n=3), IgM (n=2), and IgA (n=2). Kappa/Lambda was ambigous. Mass spectrometry analysis demonstrated a predominance of lambda light chain-derived peptides (n=3), kappa light chain (n=1), or no predominance (n=1). In addition, various peptides were represented in at least 4 (of 5) cases corresponding to serum amyloid P, SRPX, transthyretin complement components (C3,C4, Factor D) and apolipoproteins (A-IV, E, A-I, B-100).

Conclusions : We describe the clinicopathologic and preliminary proteomic features of amyloid deposits in the ocular surface and adnexa. All cases tested contained immunoglobulin derived peptides, and mass spectrometry may be helpful for analysis of these biopsies. A variety of additional peptides were identified, a finding that deserves further study.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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