Varenne Fanny, Siegfried-Vergnon Aurore, Lhomme Sébastien, Treiner Emmanuel, Pignolet Béatrice, Joly Marine, Bonneville Fabrice, Gandia Peggy, Rodriguez Christophe, Cortese Irene, Soler Vincent, Martin-Blondel Guillaume
Department of Ophthalmology, Toulouse University Hospital, Toulouse, France.
Department of Pathology, Toulouse University Hospital, Toulouse, France.
JAMA Ophthalmol. 2025 Jul 17. doi: 10.1001/jamaophthalmol.2025.2235.
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.
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.
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.
The primary outcome was identification of a potentially novel manifestation of JC polyomavirus infection.
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.
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.
免疫功能受损个体中JC多瘤病毒的重新激活最常与进行性多灶性白质脑病相关。我们报告了一例多瘤病毒相关性视网膜病变病例，这代表了JC多瘤病毒感染一种潜在的新表现形式。
描述一名患有常见可变免疫缺陷的患者，其表现出与视网膜神经节细胞层JC多瘤病毒感染相关的孤立性单侧视网膜病变。
设计、背景和参与者：本病例报告描述了一名于2022年6月至2025年3月在法国图卢兹的一家转诊中心接受治疗的患者，该患者因右侧单侧视网膜病变出现视力进行性下降。
进行前房穿刺以进行聚合酶链反应（PCR）和鸟枪法宏基因组测序，并采集视网膜活检样本用于诊断目的。作为一种治疗手段，进行了玻璃体内注射西多福韦。
主要结局是确定JC多瘤病毒感染的一种潜在新表现形式。
一名52岁白人男性出现孤立性、右侧单侧进行性视网膜病变。对前房穿刺样本进行的鸟枪法宏基因组测序和特异性PCR检测发现了JC多瘤病毒DNA。视网膜活检显示神经节细胞层的视网膜神经节细胞存在JC多瘤病毒感染。诊断为迟发性常见可变免疫缺陷并发JC多瘤病毒相关性视网膜病变。单次玻璃体内注射西多福韦与JC多瘤病毒DNA PCR的短暂转阴相关，但导致了严重的西多福韦相关不良事件。
本病例报告扩展了与多瘤病毒感染相关的临床表型谱，并提出视网膜病变可能是这种情况下未得到充分认识的并发症的可能性。对于出现病因不明的视网膜病变的免疫功能低下患者，应考虑检测JC多瘤病毒。
