先天性眼外肌纤维化综合征研究进展

先天性眼外肌纤维化综合征（CFEOM）是临床少见的先天性非共同性斜视,临床表现为非进展性限制性眼肌麻痹,可伴有上睑下垂,以往被认为是原发性眼外肌纤维化所致,最近神经病理学、神经影像学和分子遗传学的研究显示CFEOM的病因为神经源性,为一种颅神经异常支配性疾病。分别对不同类型的CFEOM的神经病理学、神经影像学和分子遗传学研究进展进行综述。

Research advances in clinical and molecular genetics of congenital fibrosis of extraocular muscle

The congenital fibrosis of extraocular muscle(CFEOM)is rare inheriting incomitant strabismus syndromes that present as congenital,unprogressive ophthalmoplegias with or without ptosis.Active and passive restriction of globe movement can be observed in these diseases.There are three types of CFEOM.CFEOM1 is autosomal dominant,and its major determining gene KIF21A maps to the chromosome 12(12p11.2-q12).Individuals with CFEOM1 have congenital unprogressive bilateral ptosis and external ophthalmoplegia.The eyes are fixed in varies degrees of downgaze,and patients hold their head in a chin-up position.Horizontal strabismus is common,and residual eye movements are often aberrant.CFEOM2 is autosomal recessive and its gene PHOX2A is located on chromosome 11q13.1.Affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with eyes partially or completely in an exotropic position.CFEOM3 is autosomal dominant with variable expression and probable incomplete penetrance.The gene maps to markers is on 16q24.2-q24.3.Affected individuals are born with a nonprogressive eye movement disorder characterized by variable ptosis and restrictive external ophthalmoplegia.It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles.Over the last 40 years,data has accumulated supporting the concept that the origin of congenital fibrosis of extraocular muscles may be primarily neuropathic rather than myopathic.The research advance in neuropathology,neuroimaging and molecular genetics of congenital fibrosis of extraocular muscles were reviewed.