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Abstract：
BACKGROUND: Blau Syndrome (BS) is a rare autosomal dominant noncaseous granulomatous disease caused by mutations in the NOD2 gene. The disease is characterized by granulomatous dermatitis, symmetrical arthritis, and uveitis, which, if left untreated, can progress to blindness. The diagnosis of BS can be challenging because of its rarity and overlap with other rheumatologic disorders. Early detection of ocular involvement is critical to prevent vision loss and improve the prognosis of patients with BS.
METHODS: In this report, we present a case of a five-year-old Chinese girl diagnosed with BS one year ago after presenting with a systemic rash and urinary calculi. Genetic testing was recommended by a physician, and a heterozygous mutation of the NOD2 gene c.1538T > C (p.M513T) was identified. Eight months ago, due to bilateral corneal punctate opacity, we had examined and diagnosed bilateral uveitis, bilateral corneal zonal degeneration, persistent fetal vasculature (PFV) in the right eye, and perivascular granuloma in the right eye. As a result, Vitrectomy was performed on the right eye, resulting in a significant improvement in visual acuity from 1/50 on the first day after surgery to 3/10 after 1 week. After 6 months, the visual acuity of the right eye was maintained at 3/20, but opacification of the lens posterior capsule was observed. Follow-up appointments are ongoing to monitor the condition of the affected eyes. Our report underscores the importance of prompt detection and management of ocular involvement in BS accompany with PFV to prevent vision loss and improve patient outcomes.
CONCLUSIONS: This report details the case of a child diagnosed with BS who accompanied a periretinal granuloma and PFV in the right eye. Regrettably, the left eye was observed to have no light perception (NLP) with the fundus not being visible. The occurrence of ocular complications in patients with BS, must be closely monitored to prevent vision loss and enhance treatment outcomes. This case underscores the importance of prompt diagnosis and management of ocular complications in patients with BS to prevent further damage and optimize patient outcomes.
METHODS: In this report, we present a case of a five-year-old Chinese girl diagnosed with BS one year ago after presenting with a systemic rash and urinary calculi. Genetic testing was recommended by a physician, and a heterozygous mutation of the NOD2 gene c.1538T > C (p.M513T) was identified. Eight months ago, due to bilateral corneal punctate opacity, we had examined and diagnosed bilateral uveitis, bilateral corneal zonal degeneration, persistent fetal vasculature (PFV) in the right eye, and perivascular granuloma in the right eye. As a result, Vitrectomy was performed on the right eye, resulting in a significant improvement in visual acuity from 1/50 on the first day after surgery to 3/10 after 1 week. After 6 months, the visual acuity of the right eye was maintained at 3/20, but opacification of the lens posterior capsule was observed. Follow-up appointments are ongoing to monitor the condition of the affected eyes. Our report underscores the importance of prompt detection and management of ocular involvement in BS accompany with PFV to prevent vision loss and improve patient outcomes.
CONCLUSIONS: This report details the case of a child diagnosed with BS who accompanied a periretinal granuloma and PFV in the right eye. Regrettably, the left eye was observed to have no light perception (NLP) with the fundus not being visible. The occurrence of ocular complications in patients with BS, must be closely monitored to prevent vision loss and enhance treatment outcomes. This case underscores the importance of prompt diagnosis and management of ocular complications in patients with BS to prevent further damage and optimize patient outcomes.
摘要：
背景：布劳综合征（BS）是一种罕见的常染色体显性遗传非干酪样肉芽肿性疾病，由NOD2基因突变引起。该疾病的特征是肉芽肿性皮炎，对称性关节炎,和葡萄膜炎,which,如果不及时治疗，可以进展到失明。BS的诊断可能是具有挑战性的，因为它的稀有性和与其他风湿病的重叠。早期发现眼部受累对于预防视力丧失和改善BS患者的预后至关重要。
方法：在本报告中，我们介绍了一例5岁的中国女孩,她在一年前出现全身性皮疹和泌尿系结石后被诊断为BS.医生建议进行基因检测,和NOD2基因c.1538T>C的杂合突变（p。M513T）被鉴定。八个月前,由于双侧角膜点状混浊，我们检查并诊断了双侧葡萄膜炎，双侧角膜带状变性，持续的胎儿血管（PFV）在右眼，右眼血管周围肉芽肿.因此,右眼行玻璃体切除术,导致视力从手术后第一天的1/50显着提高到1周后的3/10。六个月后,右眼的视力保持在3/20，但观察到晶状体后囊混浊。正在进行后续预约，以监测受影响眼睛的状况。我们的报告强调了及时检测和管理伴有PFV的BS眼部受累以预防视力丧失和改善患者预后的重要性。
结论：本报告详细介绍了一例被诊断为BS的儿童，其右眼伴有视网膜周围肉芽肿和PFV。遗憾的是,观察到左眼没有光感（NLP），眼底不可见。BS患者眼部并发症的发生，必须密切监测，以防止视力丧失和提高治疗效果。此病例强调了迅速诊断和管理BS患者眼部并发症以防止进一步损害并优化患者预后的重要性。
方法：在本报告中，我们介绍了一例5岁的中国女孩,她在一年前出现全身性皮疹和泌尿系结石后被诊断为BS.医生建议进行基因检测,和NOD2基因c.1538T>C的杂合突变（p。M513T）被鉴定。八个月前,由于双侧角膜点状混浊，我们检查并诊断了双侧葡萄膜炎，双侧角膜带状变性，持续的胎儿血管（PFV）在右眼，右眼血管周围肉芽肿.因此,右眼行玻璃体切除术,导致视力从手术后第一天的1/50显着提高到1周后的3/10。六个月后,右眼的视力保持在3/20，但观察到晶状体后囊混浊。正在进行后续预约，以监测受影响眼睛的状况。我们的报告强调了及时检测和管理伴有PFV的BS眼部受累以预防视力丧失和改善患者预后的重要性。
结论：本报告详细介绍了一例被诊断为BS的儿童，其右眼伴有视网膜周围肉芽肿和PFV。遗憾的是,观察到左眼没有光感（NLP），眼底不可见。BS患者眼部并发症的发生，必须密切监测，以防止视力丧失和提高治疗效果。此病例强调了迅速诊断和管理BS患者眼部并发症以防止进一步损害并优化患者预后的重要性。
