[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.
Yang
Xian
X
Department of Ophthalmology, Affiliated Hospital of Qingdao University Medical College, Qingdao 266003, China.
Hu
Cong
C
Fan
Gui-yun
GY
Wang
Ze
Z
Kong
Qing-lan
QL
Xu
Jin-ling
JL
Liu
Yan
Y
D000293:Adolescent; D000328:Adult; D000368:Aged; D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005355:Fibrosis / Q000151:congenital / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009801:Oculomotor Muscles / Q000473:pathology*; D009886:Ophthalmoplegia / Q000151:congenital / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D012189:Retrospective Studies; D013577:Syndrome