双侧巨细胞病毒性视网膜炎作为先天性角化不良的首发特征。
Bilateral cytomegalovirus retinitis as the presenting feature of Dyskeratosis Congenita.
作者信息
Arora Atul, Singh Ramandeep, Dogra Mohit
机构信息
Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh-160012, India.
出版信息
Eur J Ophthalmol. 2023 May;33(3):NP122-NP125. doi: 10.1177/11206721221086154. Epub 2022 Mar 4.
PURPOSE
To describe a young male with bilateral sequential Cytomegalovirus retinitis (CMVR) as the presenting feature of Dyskeratosis Congenita.
CASE REPORT
A 25-year-old human immunodeficiency virus (HIV) negative male developed CMVR in his left eye, while on a three week course of oral valganciclovir therapy for CMV retinitis in his right eye. Systemic examination revealed reticular hypopigmentation of the forearms, dystrophic nails, oral leukoplakia and complete blood counts showed pancytopenia. A diagnosis of Dyskeratosis Congenita was confirmed with genetic testing.
CONCLUSION
CMVR in non-HIV individuals should be considered as a harbinger of systemic immunosuppressive conditions. Ophthalmologists may be the first ones to suspect and diagnose congenital immunosuppressive disorders like Dyskeratosis Congenita in these patients.
目的
描述一名年轻男性，其双侧先后出现巨细胞病毒性视网膜炎（CMVR），以此作为先天性角化不良的首发表现。
病例报告
一名25岁的人类免疫缺陷病毒（HIV）阴性男性，右眼接受为期三周的口服缬更昔洛韦治疗巨细胞病毒性视网膜炎时，左眼发生了CMVR。全身检查发现前臂网状色素减退、指甲营养不良、口腔白斑，全血细胞计数显示全血细胞减少。基因检测确诊为先天性角化不良。
结论
非HIV个体中的CMVR应被视为全身性免疫抑制状况的先兆。眼科医生可能是这些患者中首先怀疑并诊断先天性免疫抑制疾病如先天性角化不良的人。
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