A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome  

作　　者：Lili Liu Yunyu Zhou Yue Liu Jiaojiao Ding Yan Xie Ningdong Li 

机构地区：[1]Department of Ophthalmology,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing,China [2]Department of Radiology,Beijing Children’s Hospital,Capital Medical University,National Center for Children’s Health,Beijing,China [3]Department of Abdominal Ultrasound,First Affiliated Hospital of Xinjiang Medical University,Xinjiang,China [4]Department of Ophthalmology,Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine,National Clinical Research Center for Eye Diseases,Shanghai,China

出　　处：《Pediatric Investigation》2023年第2期140-143,共4页儿科学研究（英文）

摘　　要：To the editor:A 4-month-old male patient was brought to our clinic due to an inability to pursue objects.He was born by cesarean section at term due to intrauterine hypoxia,with a birth weight of 4000 g.An ultrasound B-scan conducted at birth showed normal kidneys.The patient had light perception visual acuity,horizontal nystagmus,and intraocular pressures of 10mmHg in both eyes.No abnormalities were observed in the anterior ocular segment except for a sluggish response to light.

关 键 词：EDITOR visual BIRTH 

分 类 号：R725.9[医药卫生—儿科]