Autoimmune Retinopathy in a Patient with Common Variable Immunodeficiency

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.

Keywords: Autoimmune retinopathy (AIR); acute zonal occult outer retinopathy (AZOOR); common variable immunodeficiency; immune dysregulation; multimodal retinal imaging.