A 31-month-old female patient presented to our department of Ophthalmology in Xijing Hospital with insufficiency closed eyelid in left eye and photophobia for one month. Unsteady gait with asymmetrical face, bilateral auricle deformity and deafness could be observed on the pediatric patient. Esotropia in left eye combined, left facial nerve palsy, with binocular anisometropia was checked out after general eye examination. Echocardiography revealed that she was treated with ligation of the ductus arteriosus. A de novo pathogenic variant, c.3392T>C, was identified in CHD7 gene, which supported the diagnosis of CHARGE syndrome. (Chin J Ophthalmol, 2021, 57: 618-620).
患儿女性，2岁7个月，因左眼闭合不全、畏光1个月就诊于西京医院眼科。患儿行走不稳，面部不对称，双侧耳廓畸形伴耳聋；左眼内斜视、双眼屈光参差；左侧面神经麻痹；心脏彩色超声示动脉导管结扎术后。基因检测结果显示CHD7基因c.3392T>C。诊断为CHARGE综合征。（中华眼科杂志，2021，57：618-620）.