April 2009
Volume 50, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2009
A Case of Autoimmune Retinopathy Associated With Anti--Enolase Autoantibodies
Author Affiliations & Notes
  • A. C. Ko
    Ophthalmology and Visual Sciences,
    Doris Duke Clinical Research Fellowship Program,
    University of Iowa, Iowa City, Iowa
  • E. A. Faidley
    Ophthalmology and Visual Sciences,
    University of Iowa, Iowa City, Iowa
  • J. S. East
    Ophthalmology and Visual Sciences,
    University of Iowa, Iowa City, Iowa
  • M. E. Eyestone
    Ophthalmology and Visual Sciences,
    University of Iowa, Iowa City, Iowa
  • R. M. Johnston
    Ophthalmology and Visual Sciences,
    University of Iowa, Iowa City, Iowa
  • S. A. Mugge
    Ophthalmology and Visual Sciences,
    University of Iowa, Iowa City, Iowa
  • R. F. Mullins
    Ophthalmology and Visual Sciences,
    University of Iowa, Iowa City, Iowa
  • E. M. Stone
    Ophthalmology and Visual Sciences,
    Howard Hughes Medical Institute,
    University of Iowa, Iowa City, Iowa
  • Footnotes
    Commercial Relationships  A.C. Ko, None; E.A. Faidley, None; J.S. East, None; M.E. Eyestone, None; R.M. Johnston, None; S.A. Mugge, None; R.F. Mullins, None; E.M. Stone, None.
  • Footnotes
    Support  Howard Hughes Medical Institute, Foundation Fighting Blindness, Doris Duke Charitable Foundation
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 4154. doi:
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      A. C. Ko, E. A. Faidley, J. S. East, M. E. Eyestone, R. M. Johnston, S. A. Mugge, R. F. Mullins, E. M. Stone; A Case of Autoimmune Retinopathy Associated With Anti--Enolase Autoantibodies. Invest. Ophthalmol. Vis. Sci. 2009;50(13):4154.

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

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Abstract

Purpose: : Autoimmune retinopathy is a pathogenic, typically non-inflammatory immunologic process that leads to retinal degeneration due to recognition of retinal proteins as autoantigens. In this study we investigated the cause of retinal degeneration in a patient who initially appeared to have an early onset inherited retinal degeneration but was later diagnosed with autoimmune retinopathy.

Methods: : Extensive screening of genes associated with early onset retinal degeneration was performed. Western blots of bovine and human retina were used to assay the patient’s serum for antiretinal antibodies. To identify the retinal protein that showed reactivity with the patient’s serum, 2-D electrophoresis and matrix-assisted laser desorption/ionization (MALDI) mass spectrometry were used.

Results: : Screening of the coding sequences of genes known to cause early onset retinal degeneration (CRB1, RDH12, GUCY2D, AIPL1, RPE65, CRX, RPGRIP1, LRAT, CEP290, RD3, TULP1) did not reveal any disease-causing mutations. The patient’s serum showed a single strong band of anti-retinal reactivity to a protein with a molecular weight of approximately 49kDa, which was later identified as γ-enolase through MALDI mass spectrometry. In contrast, obvious anti-γ-enolase activity was not observed in 5 patients with inflammatory retinal disease, 8 patients with autoimmune retinal disease, 9 patients with molecularly confirmed retinal degeneration, and 6 normal individuals. The anti-γ-enolase antibodies included antibodies from IgG, IgA, and IgM classes.

Conclusions: : The combination of clinical and laboratory findings of this patient suggest that autoantibodies targeting γ-enolase may cause autoimmune retinopathy leading to retinal degeneration that resembles genetic forms of retinal degeneration.

Keywords: autoimmune disease • retinal degenerations: hereditary 
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