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Alcohol epitheliectomy with mechanical debridement in a case of granular corneal dystrophy with r555w homozygous mutation of TGF B1 gene

机译:TGF B1基因r555w纯合突变的粒状角膜营养不良病例的酒精上皮切除术及机械性清创术

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摘要

An eight-year-old girl, an offspring of a consanguineous marriage presented with multiple anterior stromal geographic corneal opacities in both eyes. She was diagnosed to have superficial variant of granular dystrophy based on the family history, clinical features and mutation of TGF B1 gene. She was treated by alcohol-assisted removal of epithelium followed by mechanical debridement of abnormal deposits. Postoperatively, the cornea in both eyes was clear with no trace of opacity and the patient had an unaided visual acuity of 20/20 partial.
机译:一个八岁的女孩是近亲结婚的后代,双眼都表现出多个前部间质角膜混浊。根据家族病史,临床特征和TGF B1基因突变,她被诊断出患有表面营养不良症。通过酒精辅助去除上皮,然后对异常沉积物进行机械清创,对她进行了治疗。术后,两只眼睛的角膜都清晰可见,没有混浊的痕迹,患者的视敏度为20/20部分。

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