[A family history of congenital fibrosis of the extraocular muscle with autosomal dominant inheritance].
To discover novel disease genes, a family with congenital fibrosis of the extraocular muscle was studied by a follow-up investigation, eye examinations and histo-pathological examination. There were fifteen cases suffering from congenital general fibrosis syndrome in four generations. They have congenital blepharoptosis, head tilt, chin lift, primary gaze fixed in a hypo- and exotropic position. The diagnosis is confirmed with positive forced duction testing in the affected eye. Furthermore, fibrosis of the extraocular muscles and hyaline degeneration was confirmed by histo-pathological examination. Except for different levels of restriction of the eyeball movements, other eye symptoms in positive patients are substantially identical. The genetic analysis showed that this disease was caused by autosomal dominant inheritance. The pedigree may be precious resource candidate for discovering disease gene related with congenital fibrosis of the extraocular muscle.
Peng
Jian-Hong
JH
Genetic Diagnosis Center Zhongnan hospital, Wuhan University, Hubei, China.
Huang
Fu-Sheng
FS
Liu
Yan
Y
Chai
Hong-Yan
HY
Li
Li
L
Gong
Shu-Xian
SX
Chen
Dan
D
Zhou
Xin
X
D000328:Adult; D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics / Q000473:pathology; D005133:Eye Movements; D005192:Family Health; D005260:Female; D005355:Fibrosis; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D009801:Oculomotor Muscles / Q000473:pathology*; D009886:Ophthalmoplegia / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome