Usher syndrome has classically been described as a combination of hearing loss and rod-cone dystrophy; vestibular dysfunction is present in many patients. Three distinct clinical subtypes were documented in the late 1970s. Genotyping efforts have led to the identification of several genes associated with the disease. Recent literature has seen multiple publications referring to “atypical” Usher syndrome presentations. This manuscript reviews the molecular etiology of Usher syndrome, highlighting rare presentations and molecular causes. Reports of “atypical” disease are summarized noting the wide discrepancy in the spectrum of phenotypic deviations from the classical presentation. Guidelines for establishing a clear nomenclature system are suggested.

Usher 综合征经典地被描述为听力损失和视杆细胞营养不良的组合。许多患者存在前庭功能障碍。1970 年代后期记录了三种不同的临床亚型。基因分型工作已导致鉴定出与该疾病相关的几个基因。最近的文献中出现了多篇提到“非典型”亚瑟综合征表现的出版物。这份手稿回顾了 Usher 综合征的分子病因，重点介绍了罕见的表现和分子原因。总结了“非典型”疾病的报告，注意到与经典表现的表型偏差范围存在广泛差异。建议了建立清晰命名系统的指导方针。