Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health , Bethesda, MD, USA.
Ophthalmic Genet. 2020 Oct;41(5):401-412. doi: 10.1080/13816810.2020.1747090. Epub 2020 May 6.
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-视锥营养不良的组合；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。基因分型工作导致了与该疾病相关的几个基因的鉴定。最近的文献中有许多出版物提到了“非典型”Usher 综合征的表现。本文综述了 Usher 综合征的分子病因，强调了罕见的表现和分子原因。总结了“非典型”疾病的报告，指出了与经典表现相比，表型偏差的范围存在很大差异。建议制定明确的命名系统指南。
