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首页> 外文期刊>American Journal of Ophthalmology Case Reports >Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I
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Sequential traumatic corneal open globe rupture in a patient with osteogenesis imperfecta type I

机译:I型成骨不全症患者的序贯外伤性角膜开放球体破裂

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Purpose To report a case of sequential open globe rupture in a young patient with osteogenesis imperfecta type I following minor accidental blunt injury. This represented the patient's sole clinical manifestation of connective tissue disease, leading to a diagnosis of osteogenesis imperfecta type I at the age of 12 years old. Observations A 12-year-old male presented with right eye pain following accidental blunt trauma at school while wearing protective lenses. One year ago, he required surgical repair of a left open globe following blunt trauma during a middle school basketball game. His exam was significant for a full-thickness corneal laceration, necessitating open globe repair of his right eye, which was remarkably difficult given the poor tissue constitution of the cornea and sclera. He was referred to a genetics specialist, where he was found to have a pathogenic heterozygous splice site variant in the COL1A1 gene, consistent with osteogenesis imperfecta type I. Conclusions and importance Connective tissue disease should be considered in any case of open globe rupture following minor trauma, even in the absence of other clinical manifestations of the disease. The surgical management of these patients is particularly challenging due to the fragility of the connective tissue. Early diagnosis of connective tissue disease is important to preserve visual acuity and prevent further damage to the eyes.
机译:目的报道一名年轻的钝性钝器意外损伤继发的I型成骨不全症患者的继发性开放性球囊破裂病例。这代表了患者结缔组织疾病的唯一临床表现,导致在12岁时诊断出I型成骨不全症。观察结果一名12岁的男性在学校戴着防护眼镜时因意外钝性创伤而出现右眼疼痛。一年前,在一场中学篮球比赛中,他因钝器受伤而需要对左开口球进行手术修复。他的检查对于角膜全层撕裂非常重要,需要右眼进行裸眼球修复,鉴于角膜和巩膜的组织结构较差,这非常困难。他被转介给遗传学专家,在那里他被发现在COL1A1基因中具有致病性杂合剪接位点变异,与I型成骨不全症相符。结论和重要性在未成年人继发小球破裂后,应考虑结缔组织疾病创伤,即使没有该疾病的其他临床表现。由于结缔组织的脆弱性,这些患者的外科治疗特别具有挑战性。结缔组织疾病的早期诊断对于保持视力和防止进一步损害眼睛很重要。

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