Clinical features and surgical treatment on a family with congenital fibrosis of the extraocular muscles

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.