Wang Stephanie F, Kowal Tia J, Ning Ke, Koo Euna B, Wu Albert Y, Mahajan Vinit B, Sun Yang
State University of New York Downstate Medical Center, Brooklyn, NY 11203, USA.
Department of Ophthalmology, Stanford University School of Medicine, 1651 Page Mill Road, Palo Alto, CA 94305, USA.
Genes (Basel). 2018 Dec 4;9(12):605. doi: 10.3390/genes9120605.
Joubert syndrome is a group of rare disorders that stem from defects in a sensory organelle, the primary cilia. Affected patients often present with disorders involving multiple organ systems, including the brain, eyes, and kidneys. Common symptoms include breathing abnormalities, mental developmental delays, loss of voluntary muscle coordination, and abnormal eye movements, with a diagnostic "molar tooth" sign observed by magnetic resonance imaging (MRI) of the midbrain. We reviewed the ocular phenotypes that can be found in patients with Joubert syndrome. Ocular motor apraxia is the most frequent (80% of patients), followed by strabismus (74%) and nystagmus (72%). A minority of patients also present with ptosis (43%), chorioretinal coloboma (30%), and optic nerve atrophy (22%). Although mutations in 34 genes have been found to be associated with Joubert syndrome, retinal degeneration has been reported in only 38% of patients. Mutations in and , genes critical to primary cilia function, have been linked to retinal degeneration. In conclusion, Joubert syndrome is a rare pleiotropic group of disorders with variable ocular presentations.
乔伯特综合征是一组罕见的疾病，其源于一种感觉细胞器——初级纤毛的缺陷。受影响的患者常常出现涉及多个器官系统的病症，包括大脑、眼睛和肾脏。常见症状包括呼吸异常、智力发育迟缓、自主肌肉协调能力丧失以及异常的眼球运动，通过中脑的磁共振成像（MRI）可观察到诊断性的“磨牙症”体征。我们回顾了乔伯特综合征患者中可能出现的眼部表型。眼球运动失用最为常见（80%的患者），其次是斜视（74%）和眼球震颤（72%）。少数患者还表现为上睑下垂（43%）、脉络膜视网膜缺损（30%）和视神经萎缩（22%）。尽管已发现34个基因的突变与乔伯特综合征相关，但仅有38%的患者报告有视网膜变性。对初级纤毛功能至关重要的 和 基因的突变与视网膜变性有关。总之，乔伯特综合征是一组罕见的多效性疾病，具有多样的眼部表现。
