中国斜视与小儿眼科杂志2025，Vol.33Issue(1)：25,后插4-后插6,4.DOI:10.3969/J.ISSN.1005-328X.2025.01.009
34例儿童Ⅰ型神经纤维瘤病的眼底表现及临床分析
Retinal manifestations and clinical analysis of 34 cases of type Ⅰ neurofibromatosis in children
摘要
Abstract
Objective To investigate the clinical features and fundus manifestations of neurofibroma type Ⅰ in chil-dren.Methods Clinical data of 34 children with NF1 were retrospectively analyzed,including clinical photos,hospital records,slit lamp examination,intraocular pressure,fundus photography,FFA,etc.Results The 34 patients were 20 males and 14 females,with an average age of 7.1 years from 3 months to 15 years.All the 34 cases had milky coffee stains on the skin,24 cases were found neurofibroma,4 cases were found iris hamartoma(Lisch nodule),1 case was found astrocytoma in the eye examination.14 cases were treated in surgery and underwent surgical resection of the tumor,the pathological results were consistent with the diagnosis of neurofibroma,and the genetic test results of 8 cases were abnormal chromosome 17.These results all support the NF1 diagnosis.Conclusion There was a strong correlation between ocular involvement and disease in children with NF1,and fundus examination with RetCam Ⅲ is of great significance for the diagnosis of NF1 in children.关键词
Ⅰ型神经纤维瘤病/虹膜错构瘤/星形细胞瘤/眼底检查Key words
Type 1 neurofibromatosis/Iridohamartoma/Astrocytoma/Fundus examination引用本文复制引用
孙莉,蔡文茜,张波..34例儿童Ⅰ型神经纤维瘤病的眼底表现及临床分析[J].中国斜视与小儿眼科杂志,2025,33(1):25,后插4-后插6,4.基金项目
江苏省徐州市儿童医院研究课题(22040434) （22040434）
