先天性广泛性眼外肌纤维化综合征

Congenital fibrosis of extraocular muscle syndrome

先天性广泛性眼外肌纤维化(CFEOM)是一种罕见的常染色体遗传病,其临床表现各异,遗传方式不一,至今病因尚不完全清楚。目前从临床病理学及分子遗传学领域对CFEOM的发病机制进行了一些深入研究,发现该病是一种神经源性疾病,继发眼外肌组织被致密纤维组织代替。并发现3个遗传位点和1个致病基因。本文针对CFEOM的临床表型、发病机制及治疗的研究进行文献综述。

Congenital fibrosis of extraocular muscle （CFEOM） is a rare autosomal hereditary disorder. The clinical p henotypes are varied. The inherited forms of CFEOM are different. Yet the pathogeny mechanism of CFEOM is incompletely clear. It is the difficulty in the diagnose and treatment of extraocular muscles diseases. Nowadays the pathogenesis of CFEOM has been studied in clinical pathology and molecular genetics fields, and researchers have found that it is a kind of primary neuropathy with secondary myopathic changes and that it has 3 genetic loci and 1 disease gene. Therefore it is necessary to study the phenotypes, treatments and pathogenesis of CFEOM in this paper.