[Clinical investigation of the syndrome of congenital fibrosis of extraocular muscles].

OBJECTIVE

To analyze the clinical manifestations of congenital fibrosis of the extraocular muscles (CFEOM) both in their pedigrees and sporadic cases.

METHODS

Six families and seven sporadic cases of CFEOM were retrospectively analyzed in the study. The clinical features including genetic characteristics, sex, age of first visit, major complains, subclassifications, features of ptosis and aberrant innervation were evaluated.

RESULTS

The six families of CFEOM were autosomal dominant inherited traits and classified to the general fibrosis of the extraocular muscles with the inferior rectus muscles affected most severely. All patients except for 1 had binocular involvement. 2 out of the 29 affected members had ptosis and 7 had no aberrant innervation. The male-to-female ratio of the 7 sporadic cases was 2:5. 3 cases had monocular involvement. Among all the sporadic cases 3 cases were general fibrosis syndrome combined with inferior rectus fibrosis, 1 case was general fibrosis syndrome combined with superior rectus fibrosis, 3 cases were esotropia fixus. 1 patient had monocular ptosis while 4 patients had no ptosis. 5 patient had no aberrant innervation while the other two had.

CONCLUSIONS

Clinically, the cases of CFEOM are relatively few but the clinical manifestations are complex. The combination of clinical characteristics and genetic analysis are the basis for the establishment of diagnosis. Further research is needed to understand the pathogenesis of the disease.