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 / C. Muzio, G. Casalino, C. Mapelli, M. Nassisi, L. Dell'Arti, A. Pece, F. Fossataro, G. Fabio, M. Carrabba, F. Viola. - In: OCULAR IMMUNOLOGY AND INFLAMMATION. - ISSN 0927-3948. - (2025). [Epub ahead of print] [10.1080/09273948.2025.2507712]

Autoimmune Retinopathy in a Patient with Common Variable Immunodeficiency

C. Muzio
Primo
;
M. Nassisi;L. Dell'Arti;G. Fabio;M. Carrabba;F. Viola
Ultimo
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.
Autoimmune retinopathy (AIR); acute zonal occult outer retinopathy (AZOOR); common variable immunodeficiency; immune dysregulation; multimodal retinal imaging
Settore MEDS-17/A - Malattie dell'apparato visivo
2025
mag-2025
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/1167539
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