Presumptive Cytomegalovirus Retinitis as a Complication of Dyskeratosis Congenita: A Case Report.

IF 0.5 Q4 OPHTHALMOLOGY Case Reports in Ophthalmology Pub Date : 2024-07-24 eCollection Date: 2024-01-01 DOI:10.1159/000540221

Yuxi Du, Yalong Dang

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Abstract

Introduction: Dyskeratosis congenita is a rare genetic disorder characterized by abnormalities of the skin, nails, and oral mucosa. Retinal involvement in this condition is uncommon. Here, we present a case of a young male patient diagnosed with presumptive cytomegalovirus retinitis, ultimately found to be concomitant with dyskeratosis congenita.

Case presentation: A non-HIV-infected young male with recurrent infections, including aspergillus pneumonia and pneumocystis pneumonia, presented with presumptive cytomegalovirus retinitis in both eyes. Systemic manifestations included cutaneous hyperpigmentation, nail dystrophy, and oral mucosal leukoplakia. Genetic testing revealed a mutation in the DKC1 gene. The final diagnosis was dyskeratosis congenita complicated by presumptive cytomegalovirus retinitis.

Conclusion: Cytomegalovirus retinitis can serve as an ocular complication of dyskeratosis congenita. When a patient presents with cytomegalovirus retinitis, a comprehensive systematic examination should be conducted as it indicates severe immunodeficiency.

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先天性角化病并发的推测性巨细胞病毒视网膜炎：病例报告。

简介先天性角化异常症是一种罕见的遗传性疾病，其特征是皮肤、指甲和口腔粘膜异常。视网膜受累的情况并不常见。在此，我们介绍了一例被诊断为巨细胞病毒视网膜炎的年轻男性患者的病例，最终发现该病与先天性角化障碍同时存在：一名非艾滋病毒感染的年轻男性患者反复感染，包括曲霉菌肺炎和肺孢子菌肺炎，双眼出现推测性巨细胞病毒视网膜炎。全身表现包括皮肤色素沉着、指甲营养不良和口腔粘膜白斑。基因检测发现，DKC1 基因发生了突变。最终诊断为先天性角化不良并发巨细胞病毒视网膜炎：结论：巨细胞病毒视网膜炎可能是先天性角化异常的眼部并发症。当患者出现巨细胞病毒视网膜炎时，应进行全面系统的检查，因为这表明患者存在严重的免疫缺陷。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Ophthalmology OPHTHALMOLOGY-

CiteScore

0.90

自引率

0.00%

发文量

129

审稿时长

12 weeks

期刊介绍： This peer-reviewed online-only journal publishes original case reports covering the entire spectrum of ophthalmology, including prevention, diagnosis, treatment, toxicities of therapy, supportive care, quality-of-life, and survivorship issues. The submission of negative results is strongly encouraged. The journal will also accept case reports dealing with the use of novel technologies, both in the arena of diagnosis and treatment. Supplementary material is welcomed. The intent of the journal is to provide clinicians and researchers with a tool to disseminate their personal experiences to a wider public as well as to review interesting cases encountered by colleagues all over the world. Universally used terms can be searched across the entire growing collection of case reports, further facilitating the retrieval of specific information. Following the open access principle, the entire contents can be retrieved at no charge, guaranteeing easy access to this valuable source of anecdotal information at all times.