Goldenhar综合征的眼部特征及治疗进展

Ocular features and treatment of Goldenhar syndrome

Goldenhar综合征是一种罕见的、表现为来源于第一、二腮弓的器官系统发育异常的先天性畸形综合征。其病因复杂多样,涉及遗传和环境因素,但具体的发病机制不明。主要临床表现为颅面部的发育异常,也可累及其他器官或系统。Goldenhar综合征的眼部表现复杂多样,可累及眼前段、眼睑及附属器、眼后段、眼外肌及眼眶,其中以眼表迷芽瘤和上睑缺损最为常见。需根据患者情况制定个性化的治疗方案,眼部异常的治疗以手术治疗为主,考虑到对患者视力发育和心理健康的影响建议在较小年龄进行干预。

Goldenhar syndrome is a rare,congenital malformation syndrome characterized by dysplasia of structures driving from the first and second branchial arches.The etiology is complex and varied with the influence of genetic and environmental factors,but the specific pathogenesis is still poorly elucidated.The main manifestations are cranial and facial dysplasia,and other organs or systems may be involved.The ocular manifestations of Goldenhar syndrome are complex and diverse,involving the anterior segment,eyelid and appendages,posterior segment,extraocular muscle and orbit,among which epibulbar choristoma and upper eyelid coloboma are the most common abnormalities.Personalized treatment should be developed according to patients'conditions.Surgical treatment is the main treatment for ocular abnormalities.Early intervention is recommended for the sake of visual development and psychosocial health of patients.