[Magnetic resonance imaging features in two Chinese family with congenital fibrosis of extraocular muscles].
OBJECTIVE
The aim of this article was to investigate the structural basis of ocular motility and visual abnormalities in humans with congenital fibrosis of the extraocular muscles (CFEOM).


METHODS
17 volunteers from 2 CFEOM pedigrees Clinical ophthalmic and motility examed and 18 normal control subjects were correlated with thin-sectioned magnetic resonance imaging (MRI) across the orbit and the brain-stem level.


RESULTS
Subjects with CFEOM had severe bilateral blepharoptosis, limited supraduction, and variable ophthalmoplegia. In affected subjects, MRI demonstrated atrophy of the levator palpebrae superioris, all EOMs, and the optic nerves, and small or absent orbital motor nerves. The oculomotor nerve was most severely hypoplastic, but the abducens was also affected. Subjects with CFEOM exhibited subclinical but highly significant reduction from normal in mean optic nerve size (P < 0.05). There are also some difference between the two CFEOM pedigrees.


CONCLUSIONS
These findings suggest that neuronal disease is primary in CFEOM, with myopathy arising secondary to abnormal innervation and the oculomotor nucleus and trochlear nucleus of the abnormalities defects.
The Department of Ophthalmology, Renmin Hospital of Wuhan University, Wuhan 430060, China.
Li
L
Wu
Lian-Hong
LH
Zhou
Chang-Sheng
CS
Liu
Yun-Fei
YF
Cha
Jiong
J
Wang
Yi-Qiao
YQ
Xing
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005355:Fibrosis / Q000151:congenital / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009801:Oculomotor Muscles / Q000002:abnormalities* / Q000473:pathology*; D009802:Oculomotor Nerve / Q000473:pathology*; D009886:Ophthalmoplegia / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D010375:Pedigree; D055815:Young Adult