CAJ | 학술논문

目的：探讨家族性先天性眼外肌纤维化的临床特点、手术治疗方法及疗效。 　　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。
목적：탐토가족성선천성안외기섬유화적림상특점、수술치료방법급료효。 　　방법：대선천성안외기섬유화가계성원진행안부적각항검사，포괄：시력、안압、안저、안외기공능、안광CT、쌍안B초등검사，병대부분환자행사시교정술급액기현조술。 　　결과：해가계안외기섬유화발병솔위31%。해가계각환자균쌍안수루，자유표현위안구운동장애、상검하수，안구위우하전위，향정전방주시시반유이상복주，향전주시태하합。수년령증장병정가중불명현。기타전신계통기관미견이상。경수술치료，하합상태급외관가획득명현개선，안구운동개선불명현。 　　결론：해가계구유상염색체현성유전특정。통과수술치료가개선두위급외관。안구운동무명현개선。
AIM: To investigate the clinical characteristics, surgical outcome and curative effect of congenital fibrosis of the extraocular muscles ( CFEOM) . 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.