关键词: Waardenburg综合征, 眼部特征, 基因

Abstract: 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. (Int Rev Ophthalmol, 2023, 47: 238-243)

Key words: Waardenburg syndrome, ocular characteristics, gene