Purpose: To describe a rare case of posterior ocular involvement consistent with an autoimmune retinopathy (AIR) on multimodal retinal imaging in a patient with common variable immunodeficiency (CVID). Methods: Observational case report. Results: A 34-year-old male patient with a recent diagnosis of CVID was referred to our clinic following the incidental finding of retinal lesions in his eyes. He was asymptomatic and his best-corrected visual acuity (BCVA) was 20/20 in both eyes. Multimodal retinal imaging including optical coherence tomography and fundus autofluorescence revealed peripapillary and mid-peripheral hyperautofluorescent lesions associated with outer nuclear layer thinning and ellipsoid/interdigitation zones disruption in both eyes. PET/CT imaging ruled out systemic inflammation or malignancy and a diagnosis of a possible non-paraneoplastic AIR was established. During follow-up BCVA was stable, the patient remained asymptomatic, and the retinal imaging findings showed no progression. At 12 months, the patient reported new-onset occasional photopsias described as “shimmering lights.” Despite these symptoms, BCVA and retinal imaging remained stable. Conclusion: This case supports a potential association between CVID and immune-mediated retinal pathology, highlighting the importance of comprehensive ophthalmic evaluation and multimodal retinal imaging in CVID patients and further research into this association.

Autoimmune Retinopathy in a Patient with Common Variable Immunodeficiency / Muzio, Chiara; Casalino, Giuseppe; Mapelli, Chiara; Nassisi, Marco; Dell'Arti, Laura; Pece, Alfredo; Fossataro, Federica; Fabio, Giovanna; Carrabba, Maria; Viola, Francesco. - In: OCULAR IMMUNOLOGY AND INFLAMMATION. - ISSN 1744-5078. - (2025). [10.1080/09273948.2025.2507712]

Autoimmune Retinopathy in a Patient with Common Variable Immunodeficiency

Fossataro, Federica;
2025

Abstract

Purpose: To describe a rare case of posterior ocular involvement consistent with an autoimmune retinopathy (AIR) on multimodal retinal imaging in a patient with common variable immunodeficiency (CVID). Methods: Observational case report. Results: A 34-year-old male patient with a recent diagnosis of CVID was referred to our clinic following the incidental finding of retinal lesions in his eyes. He was asymptomatic and his best-corrected visual acuity (BCVA) was 20/20 in both eyes. Multimodal retinal imaging including optical coherence tomography and fundus autofluorescence revealed peripapillary and mid-peripheral hyperautofluorescent lesions associated with outer nuclear layer thinning and ellipsoid/interdigitation zones disruption in both eyes. PET/CT imaging ruled out systemic inflammation or malignancy and a diagnosis of a possible non-paraneoplastic AIR was established. During follow-up BCVA was stable, the patient remained asymptomatic, and the retinal imaging findings showed no progression. At 12 months, the patient reported new-onset occasional photopsias described as “shimmering lights.” Despite these symptoms, BCVA and retinal imaging remained stable. Conclusion: This case supports a potential association between CVID and immune-mediated retinal pathology, highlighting the importance of comprehensive ophthalmic evaluation and multimodal retinal imaging in CVID patients and further research into this association.
2025
Autoimmune Retinopathy in a Patient with Common Variable Immunodeficiency / Muzio, Chiara; Casalino, Giuseppe; Mapelli, Chiara; Nassisi, Marco; Dell'Arti, Laura; Pece, Alfredo; Fossataro, Federica; Fabio, Giovanna; Carrabba, Maria; Viola, Francesco. - In: OCULAR IMMUNOLOGY AND INFLAMMATION. - ISSN 1744-5078. - (2025). [10.1080/09273948.2025.2507712]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/1005162
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