JC Virus-Related Retinopathy.

Abstract

Importance: Reactivation of the JC polyomavirus in individuals with impaired immunity is most commonly associated with progressive multifocal leukoencephalopathy. We report a case of polyomavirus-related retinopathy, representing a potentially novel manifestation of JC polyomavirus infection.

Objective: To describe a patient with common variable immunodeficiency who exhibited isolated unilateral retinopathy related to JC polyomavirus infection of the retinal ganglion cell layer.

Design, setting, and participants: This case report describes a patient managed at a referral center in Toulouse, France, from June 2022 to March 2025 presenting with progressive decrease in visual acuity related to a right-sided unilateral retinopathy.

Interventions: Anterior eye chamber paracentesis was performed for polymerase chain reaction (PCR) and shotgun metagenome sequencing, and a retinal biopsy was taken for diagnostic purposes. An intravitreal injection of cidofovir was administered as a therapeutic procedure.

Main outcomes and measures: The primary outcome was identification of a potentially novel manifestation of JC polyomavirus infection.

Results: A 52-year-old White male presented with isolated, right-sided unilateral progressive retinopathy. Shotgun metagenome sequencing and specific PCR on anterior chamber paracentesis identified JC polyomavirus DNA. A biopsy of the retina demonstrated JC polyomavirus infection of retinal ganglion cells in the ganglion cell layer. A diagnosis of late-onset common variable immunodeficiency complicated by JC polyomavirus-related retinopathy was made. The single intravitreal injection of cidofovir administered was associated with transient negativation of the JC polyomavirus DNA PCR, but resulted in severe cidofovir-related adverse events.

Conclusions and relevance: This case report extends the spectrum of clinical phenotypes associated with polyomavirus infection and raises the possibility that retinopathy may be an underappreciated complication in this setting. Testing for JC polyomavirus should be considered in immunocompromised patients presenting with retinopathy of unexplained etiology.