方法：对先天性眼外肌纤维化家系成员进行眼部的各项检查，包括：视力、眼压、眼底、眼外肌功能、眼眶CT、双眼B超等检查，并对部分患者行斜视矫正术及额肌悬吊术。

结果：该家系眼外肌纤维化发病率为31%。该家系各患者均双眼受累，自幼表现为眼球运动障碍、上睑下垂，眼球位于下转位，向正前方注视时伴有异常辐辏，向前注视抬下颌。随年龄增长病情加重不明显。其他全身系统器官未见异常。经手术治疗，下颌上抬及外观可获得明显改善，眼球运动改善不明显。

结论：该家系具有常染色体显性遗传特征。通过手术治疗可改善头位及外观。眼球运动无明显改善。

METHODS: The eye exam of members in a Chinese family with CFEOM includes visual acuity, intraocular pressure, dilated fundus exam, extraocular muscle function test, orbital CT scan, and ultrasound. We did extraocular muscle surgery or frontalis suspension procedure for affected subjects in the family.

RESULTS: The incidence of CFEOM in this family was 31%. All patients were affected bilateraly with symptom of congenital eye movement disorder, ptosis, hypotropia, perverted convergence on upgaze and chin up head position. As the age grows, the diseases worsen unobviously. No other systemic disorder was found. Surgical treatment improved the anomalous head position although the ocular movement disorder preserved.

CONCLUSION: The pattern of inheritance in our serial patients are autosomal dominant. Surgery can improve chin up head position and cosmetic appearance. However, the eye movement deficiency cannot be improved.