先天性眼外肌纤维化1例(英文)

A distinct and sporadic case of congenital fibrosis of the extraocular muscles

目的:报道 1 例少见的先天性眼外肌纤维化( congenital fibrosis of the extraocular muscles,CFEOM) 病例。方法:病理报告。结果:一名 3 岁的中国男孩表现为眼外斜和上睑下垂,被诊断为 CFEOM。眼底、神经影像学、电生理检查发现异常视神经。病理学显示眼外肌萎缩变性。结论:本病例提示 CFEOM 可合并异常视神经和非典型眼运动。病理学检查有助于发现眼外肌纤维的病变。

AIM： To report a distinct and sporadic case of congenital fibrosis of the extraocular muscles（CFEOM）.METHODS：A case report.RESULTS： A 3-year-old Chinese boy who presented with exotropia and ptosis was diagnosed with CFEOM. Abnormal optic nerves were depicted by fundus examination, neuroradiology and electrophysiology. Pathological study showed muscle fibers were atrophic degeneration.CONCLUSION： Our case highlights that CFEOM may have abnormal optic nerve and nontypical eye movement. The pathological study could help to find out the muscle fibers＇ alterations.