Xinhua Hospital, Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ocul Immunol Inflamm. 2023 Jan;31(1):134-141. doi: 10.1080/09273948.2021.1995762. Epub 2021 Dec 8.
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease whose optimal curative treatment is hematopoietic stem cell transplantation (HSCT). Patients with WAS may suffer from cytomegalovirus retinitis (CMVR) which can cause vision loss. This study is to report the progression and prognosis of patients with WAS and CMVR.
A retrospective case series of ten patients with WAS and CMVR before and after HSCT who were referred to the Ophthalmology Department of Xinhua Hospital from June 2018 to February 2021. Progression and prognosis were recorded.
Five patients were diagnosed with CMVR before receiving HSCT at a median age of 10.5 months (range: 4-23 months). Eight patients developed CMVR post-transplantation with a median interval from HSCT of 3.5 months (range: 1-9 months).
Regular fundus examinations and prompt treatments in patients with WAS are therefore crucial before they receiving HSCT or approximately 3.5 months after HSCT until complete reconstitution of immune function.
Wiskott-Aldrich 综合征（WAS）是一种 X 连锁隐性疾病，其最佳治疗方法是造血干细胞移植（HSCT）。WAS 患者可能患有巨细胞病毒视网膜炎（CMVR），可导致视力丧失。本研究旨在报告接受 HSCT 前后患有 WAS 和 CMVR 的患者的进展和预后。
回顾性分析 2018 年 6 月至 2021 年 2 月期间，10 例因 WAS 合并 CMVR 而转诊至新华医院眼科的患者的病例系列。记录了进展和预后。
5 例患者在接受 HSCT 前被诊断为 CMVR，中位年龄为 10.5 个月（范围：4-23 个月）。8 例患者在移植后发生 CMVR，从 HSCT 到发生的中位时间为 3.5 个月（范围：1-9 个月）。
因此，在接受 HSCT 之前或移植后大约 3.5 个月内，直至免疫功能完全重建，对 WAS 患者进行定期眼底检查和及时治疗至关重要。
