Ashour Doaa Maamoun, Mohsen Reem, Elziaty Rahma A, Attia Omnia Bahaa, Diab Haytham Samy, Tawfik Caroline Atef
Department of Ophthalmology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Rheumatology Division, Department of Internal Medicine, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
J Ophthalmic Inflamm Infect. 2025 May 30;15(1):48. doi: 10.1186/s12348-025-00504-7.
To report a case of two monozygotic twins presenting with simultaneous onset of bilateral uveitis of variable phenotypic presentations, one of whom was pathologically confirmed to have sarcoidosis.
Two 21-year-old monozygotic male twins (Twin A and Twin B) presented with bilateral red eyes and photophobia of six weeks' duration. Their past medical history included learning difficulties and low IQ since early childhood. Twin A was operated for Celiac Artery Compression Syndrome. Examination and work-up revealed that Twin A had bilateral anterior granulomatous uveitis, and retinal phlebitis in addition to hilar and mediastinal lymphadenopathy. A biopsy was taken, and histopathological examination showed non-caseating granuloma. Twin B had bilateral non-granulomatous anterior uveitis, chorioretinal lesions, and peripheral retinal vasculitis. Genetic testing in the form of a Whole Exome Sequencing was done, and no causal variant was detected for uveitis or sarcoidosis, however, a homozygous likely pathogenic duplication in SYNGAP1 was detected. This mutation is associated with autosomal dominant intellectual developmental disorder.
This is the first-reported case of concurrent bilateral uveitis in monozygotic twins, with confirmed sarcoidosis in one. This presentation highlights the role of genetic predisposition and shared environmental factors in disease onset and clinical manifestations. Further research into the genetic-environmental interplay is needed to elucidate the mechanisms underlying simultaneous disease onset and guide personalized monitoring strategies for at-risk families.
报告一例单卵双胞胎同时出现双侧葡萄膜炎且表现出不同表型的病例，其中一人经病理证实患有结节病。
两名21岁的单卵男性双胞胎（双胞胎A和双胞胎B）出现双眼发红和畏光症状，持续六周。他们的既往病史包括自幼学习困难和智商较低。双胞胎A因腹腔动脉压迫综合征接受手术。检查和评估发现，双胞胎A患有双侧前部肉芽肿性葡萄膜炎，除肺门和纵隔淋巴结肿大外，还有视网膜静脉炎。进行了活检，组织病理学检查显示为非干酪样肉芽肿。双胞胎B患有双侧非肉芽肿性前部葡萄膜炎、脉络膜视网膜病变和周边视网膜血管炎。进行了全外显子测序形式的基因检测，未检测到葡萄膜炎或结节病的致病变异，但在SYNGAP1基因中检测到一个纯合的可能致病重复。该突变与常染色体显性智力发育障碍有关。
这是首例报告的单卵双胞胎同时发生双侧葡萄膜炎的病例，其中一人确诊为结节病。这种表现突出了遗传易感性和共同环境因素在疾病发病和临床表现中的作用。需要进一步研究基因-环境相互作用，以阐明同时发病的机制，并指导对高危家庭的个性化监测策略。
