Meller Leo, Jagadeesh Vasan, Oca Michael, Wilson Katherine, Zuraski Connor, Koretz Zachary A, Chevez-Barrios Patricia, Liu Catherine, Berry Jesse L, Scott Nathan L
School of Medicine, University of California, San Diego, CA, USA.
Viterbi Family Department of Ophthalmology and Shiley Eye Institute, University of California San Diego, San Diego, CA, USA.
Case Rep Ophthalmol. 2024 Jun 12;15(1):483-489. doi: 10.1159/000538738. eCollection 2024 Jan-Dec.
Cytomegalovirus (CMV) retinitis in the setting of pediatric retinoblastoma is exceedingly unusual. Here, we present the first reported case of CMV retinitis in an enucleated eye with retinoblastoma after chemotherapy in the western hemisphere.
A 2-year-old Hispanic male without a family history of retinoblastoma presented with a 3-month history of right eye exotropia and squinting. Clinical examination revealed dense white vitreous opacities in the right eye. Ocular oncology evaluation unveiled an exudative retinal detachment with vitreous seeds, subretinal seeding, and a tumor emanating from the retina in the superonasal quadrant of the right eye. The patient was diagnosed with unilateral Group D retinoblastoma, and RB1 sequencing revealed a pathogenic variant with mosaicism. Treatment involved systemic chemotherapy, intravitreal chemotherapy, and cryotherapy. However, the patient developed a rhegmatogenous retinal detachment with diffuse vitreous hemorrhage and ultimately underwent right eye enucleation. Interestingly, histopathological analysis of the enucleated eye revealed concomitant CMV retinitis alongside retinoblastoma. After consultation with infectious disease, antiviral treatment was not initiated as the patient remained asymptomatic and maintained a recovered immune system. Repeat CMV PCR confirmed viral clearance. The patient received a prosthetic eye and continues to be monitored for retinoblastoma recurrence.
Clinicians should be aware of the potential for CMV retinitis to develop in retinoblastoma patients receiving chemotherapy, which may complicate clinical decision-making and management. Timely identification of CMV retinitis in this setting may improve patient ocular outcomes and overall prognosis.
小儿视网膜母细胞瘤合并巨细胞病毒（CMV）视网膜炎极为罕见。在此，我们报告西半球首例化疗后视网膜母细胞瘤眼球摘除术中出现CMV视网膜炎的病例。
一名2岁西班牙裔男性，无视网膜母细胞瘤家族史，出现右眼外斜视和斜视3个月。临床检查发现右眼有致密的白色玻璃体混浊。眼科肿瘤学评估显示有渗出性视网膜脱离伴玻璃体播散、视网膜下播散，以及右眼鼻上象限视网膜出现肿瘤。该患者被诊断为单侧D组视网膜母细胞瘤，RB1基因测序显示存在嵌合致病性变异。治疗包括全身化疗、玻璃体腔内化疗和冷冻疗法。然而，患者出现了孔源性视网膜脱离伴弥漫性玻璃体出血，最终接受了右眼摘除术。有趣的是，摘除眼球的组织病理学分析显示视网膜母细胞瘤合并CMV视网膜炎。在咨询感染病科后，由于患者无症状且免疫系统已恢复，未开始抗病毒治疗。重复CMV聚合酶链反应证实病毒已清除。患者接受了义眼，目前仍在监测视网膜母细胞瘤复发情况。
临床医生应意识到接受化疗的视网膜母细胞瘤患者有发生CMV视网膜炎的可能性，这可能使临床决策和管理复杂化。在此情况下及时识别CMV视网膜炎可能改善患者的眼部预后和总体预后。
