Immunology of the eye

Oral

Importance of Checking for Active Autoimmunity in Gene-defined Retinal Dystrophy Patients

Friday, June 16
6:15 PM - 7:30 PM

Purpose: Anti-retinal antibodies (ARA) have been found in some patients with retinal dystrophies indicating an autoimmune component. Immune suppressive treatment in these patients can slow progression of vision loss but does not usually reduce ARA. We have set out to define more robust criteria for active retinal autoimmunity and discover clues to the mechanisms of autoimmunity in these patients.


Methods: A set of 49 patients with defined dystrophy-associated genetic mutations were consented. An extensive immune profile consisting of ARA Western blot, anti-recoverin IgG and IgM ELISA, recoverin-induced cytokine (IFNg, TNFa and IL-10) production, four 10-color flow cytometry panels to define lymphocyte subsets, and gene expression analysis by NanoStringTM was performed on blood samples. Data were compared to non-dystrophic, and non-autoimmune controls.


Results: Several dystrophy patients were classified as autoimmune by: 1) three or more ARA; 2) a high titer of recoverin-specific IgG or IgM; and/or 3) very high production of IFNg or TNFa in response to recoverin. We found that 28/49 (57%) of the dystrophy patients had elevated anti-recoverin antibody titers or inflammatory cytokine responses. These parameters closely correlated with disease activity and were sensitive to treatment with immune suppression. High levels of natural killer cells (>30%) and B lymphocytes (>20%) were frequently found in the blood of autoimmune patients but not the non-autoimmune groups. Cell activation and gene expression in the patients were also affected by treatments.


Conclusions: Gene-associated retinal dystrophies can be exacerbated by autoimmunity. Cellular and humoral immune responses against recoverin mark disease activity and treatment response.

Steven K. Lundy

Associate Professor
Internal Medicine-Rheumatology

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    Athanasios J. Karoukis

    Ophthalmology and Visual Sciences, Kellogg Eye Center

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      Ray Ohara

      Internal Medicine-Rheumatology

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        Enayat Nikoopour

        Ophthalmology and Visual Sciences, Kellogg Eye Center

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          Mohammad I. Othman

          Ophthalmology and Visual Sciences, Kellogg Eye Center

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            M. Fernanda Abalem

            Ophthalmology and Visual Sciences, Kellogg Eye Center

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              K. Thiran Jayasundera

              Ophthalmology and Visual Sciences, Kellogg Eye Center

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                Kari E.H. Branham

                Ophthalmology and Visual Sciences, Kellogg Eye Center

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                  John R. Heckenlively

                  Ophthalmology and Visual Sciences, Kellogg Eye Center

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