Abstract
Autoimmune retinopathy (AIR) causes rapidly progressive vision loss that is treatable but often is confused with other forms of retinal degeneration including retinitis pigmentosa (RP). Measurement of anti-retinal antibodies (ARA) by Western blot is a commonly used laboratory assay that supports the diagnosis yet does not reflect current disease activity. To search for better diagnostic indicators, this study was designed to compare immune biomarkers and responses toward the retinal protein, recoverin, between newly diagnosed AIR patients, slow progressing RP patients and healthy controls. All individuals had measurable anti-recoverin IgG and IgM antibodies by ELISA regardless of disease status or Western blot results. Many AIR patients had elevated anti-recoverin IgG1 levels and a strong cellular response toward recoverin dominated by IFNγ. RP patients and controls responded to recoverin with a lower IFNγ response that was balanced by IL-10 production. Both AIR and RP patients displayed lower levels of total peripheral blood mononuclear cells that were due to reductions of CD4+ TH cells. A comparison of messenger RNA (mRNA) for immune-related genes in whole blood of AIR patients versus RP patients or controls indicated lower expression of ATG5 and PTPN22 and higher expression of several genes involved in TH cell signaling/transcription and adhesion. These data indicate that an immune response toward recoverin is normal in humans, but that in AIR patients the balance shifts dramatically toward higher IFNγ production and cellular activation.
Highlights
Autoimmune retinopathy (AIR) is a retinal degenerative disease that results in an acute and rapid loss of peripheral vision, night blindness and other visual defects
This study demonstrates that immune responses against the retinal antigen, recoverin, are more common in humans than previously suspected
The most striking finding in this study was that the levels of IFNγ production by Peripheral blood mononuclear cells (PBMC) in response to recoverin was elevated in all of the AIR patients compared to retinitis pigmentosa (RP) and healthy control groups
Summary
Autoimmune retinopathy (AIR) is a retinal degenerative disease that results in an acute and rapid loss of peripheral vision, night blindness and other visual defects. The original discovery of AIR resulted from analysis of a number of patients referred for retinitis pigmentosa (RP) who did not have the classical presentation, but instead had retinas that looked normal or were hypo-pigmented [1, 2]. These patients often did not have family histories of genetic polymorphisms commonly associated with RP, but instead many had significant personal or family histories of Immune Profiling of AIR Patients autoimmunity, or a comorbidity of melanoma or another type of cancer. It is critically important to develop methods for early detection of AIR, and to have better defined treatments for AIR in order to preserve vision in these patients
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