Waardenburg综合征的眼部特征及其分子遗传学研究进展  

Ocular characteristics and molecular genetics advances of Waardenburg syndrome

作　　者：彭楚芝 贾红艳[1] 焦永红[1] Peng Chuzhi;Jia Hongyan;Jiao Yonghong(Beijing Tongren Eye Center,Beijing Tongren Hospital,Capital Medical University,Beijing Key Laboratory of Ophthalmology and Vision Sciences,Beijing 100730,China)

机构地区：[1]首都医科大学附属北京同仁医院、北京同仁眼科中心、眼科学与视觉科学北京市重点实验室,100730

出　　处：《国际眼科纵览》2023年第3期238-243,共6页International Review of Ophthalmology

摘　　要：Waardenburg综合征以感音神经性听力损失和全身性(皮肤、毛发和眼球)色素沉着异常为主要表现,其具有高度的临床表型和遗传学异质性。患者通常伴有连眉、内眦距增宽、鼻根高而宽、白色额发等特殊颅面部改变。虹膜异色是其最常见且最具辨识度的眼部色素异常表现,还可出现脉络膜和视网膜的色素异常。若伴随上睑下垂、斜视和青光眼等眼部异常,则可能导致视功能障碍。根据临床表现可分四个亚型,每个亚型均可出现眼部色素异常,其中I型和III型可伴有内眦距增宽,IV型累及神经系统时可表现为眼球震颤。目前已知的致病基因有PAX3、MITF、EDN3、EDNRB、SOX10和SNAI2等6个。Waardenburg syndrome(WS)is characterized by sensorineural hearing loss and generalized(skin,hair,and eyes)pigmentation abnormalities.WS is a highly clinically and genetically heterogeneous disorder.Special craniofacial features such as synophrys,telecanthus,a high and broad nasal root,and white forelock are usually found in WS.Heterochromia iridum is the most common and recognizable manifestation of ocular pigmentation abnormalities in WS,and pigmentation of the choroid and retina can also occur.Ocular abnormalities such as ptosis,strabismus,and glaucoma may lead to visual dysfunction.WS is divided into four subtypes according to different clinical presentations.Ocular pigmentation abnormalities can occur in each subtype.Type I WS and type III WS may be accompanied by telecanthus,and type IV may present as nystagmus when the nervous system is involved.It has been confirmed that PAX3,MITF,SOX10,EDN3,EDNRB,and SNAI2 are disease-causing genes for WS.

关 键 词：WAARDENBURG综合征 眼部特征 基因 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R77[医药卫生—临床医学]