Joubert综合征眼部病变的研究进展

Research progress on Joubert syndrome and related ophthalmic complications

Joubert综合征是罕见的多基因遗传性疾病,主要表现为肌张力减退、发育迟缓、小脑蚓部发育不全、异常呼吸、异常眼运动等。Joubert综合征与初级纤毛的信号通路位点基因突变有关,以常染色体隐性遗传模式遗传,眼部表现中眼球运动异常最常见,其次是斜视、眼球震颤、异常视网膜色素沉着、上睑下垂、视网膜脉络膜部缺损等。本文对Joubert综合征的发病机制、眼部相关表现、治疗等进行综述,旨在增加眼科医师对该病的了解。对于早期就诊患者,应注意眼部表型鉴别及全身综合征的可能性,详细的家族史询问及全身系统特征病变的观察至关重要,颅脑磁共振有助于提高本病诊断率。

Joubert syndrome is a rare polygenic disease,characterized by hypotonia,growth retardation,microcephaly,unusual breathing and facial features.The main ocular manifestations are eye movement abnormalities,strabismus,nystagmus,abnormal retinal pigmentation,ptosis and chorioretinal coloboma.This article reviews the recent progress in pathogenesis,clinical presentation,ophthalmological manifestations and treatment of Joubert syndrome.Detailed family history and observation of characteristic systemic lesions were considered essential and cranial magnetic resonance necessary for the diagnosis of the syndrome.