Autoimmune Retinopathy Mimicking Heritable Retinal Degeneration in a Patient with Common Variable Immune Deficiency
| Autor: | Budd A. Tucker, Ian C. Han, Adam P. DeLuca, Elizabeth L Kennedy, Zuhair K. Ballas, Todd E. Scheetz, Robert F. Mullins, Elaine M. Binkley, Luke A Wiley, Edwin M. Stone, James C. Folk, Grefachew Workalemahu, Meagan A Luse, Nicole Tatro |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Retinal degeneration
genetic structures medicine.disease_cause 01 natural sciences Autoimmune retinopathy Article Autoimmunity 03 medical and health sciences 0302 clinical medicine Immune system Antigen medicine 0101 mathematics biology business.industry Common variable immunodeficiency 010102 general mathematics Autoantibody General Medicine medicine.disease eye diseases Ophthalmology Immunology 030221 ophthalmology & optometry biology.protein sense organs Antibody business |
| Zdroj: | Retin Cases Brief Rep |
| Popis: | PURPOSE: 1) To describe a case of autoimmune retinopathy mimicking heritable photoreceptor degeneration in a patient with common variable immune deficiency, and 2) to investigate the humoral and cell-mediated branches of the immune system in this patient to better understand the mechanism of immune-mediated photoreceptor damage in this disease. METHODS: Retrospective chart review with evaluation of multimodal imaging, genotype analysis, and investigation of circulating autoantibodies and T cell response to retinal antigens. RESULTS: A 40-year-old woman with bilateral, progressive vision loss was referred for evaluation of a possible inherited retinal degeneration. She was found to have asymmetric peripheral visual field constriction, cystoid macular edema, vitreous cells, and bone-spicule-like pigmentary changes in both eyes. An extensive workup for underlying infectious or inflammatory causes was unrevealing, and molecular analysis for heritable retinal degeneration failed to identify a plausible disease-causing genotype. Screening for anti-retinal antibodies showed the presence of multiple anti-retinal antibodies, consistent with a diagnosis of autoimmune retinopathy. Immunologic workup demonstrated markedly decreased levels of serum IgA and IgG, consistent with common variable immune deficiency. T-cells isolated from the patient showed increased proliferation when stimulated with human retinal proteins, supporting a role for both cell and humoral-mediated autoimmunity. Treatment with mycophenolate mofetil and intravenous immunoglobin therapy slowed the progression of disease and resulted in preservation of her central vision. CONCLUSIONS: Autoimmune retinopathy can be seen in common variable immune deficiency and have clinical findings similar to heritable photoreceptor degeneration. Both the humoral and cellular immune responses are involved in the pathophysiology. Immune modulatory therapy has stabilized the disease course in this patient and may play an important role in the management of autoimmune retinopathy. |
| Databáze: | OpenAIRE |
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