Kimberling W J, Möller C
Center for Hereditary Communication Disorders, Boys Town National Research Hospital, Omaha, Nebraska 68131.
J Am Acad Audiol. 1995 Jan;6(1):63-72.
Usher syndrome is an autosomal-recessive disorder manifested by hearing impairment, retinitis pigmentosa (RP), and variable vestibular deficit. Recent progress in the characterization of the genetics of Usher syndrome has shown that this disorder is phenotypically and genetically complex. This progress impacts the approach of the clinicians in the study of patients who may potentially have Usher syndrome. There are three major phenotypic classes: Usher I, II, and III. Usher I is distinguished from Usher II by having a more severe audiologic involvement and by the presence of vestibular areflexia. Usher III has a progressive hearing loss with variable vestibular involvement. A minimum of three genes have been identified as being responsible for Usher I; two have been identified as being responsible for Usher II. It is not yet clear whether other manifestations such as progressive hearing loss, associated mental retardation, or other physical anomalies are associated with the known Usher genes or whether they represent as yet undiscovered genetic disorders. As progress towards the identification of the Usher genes is made, the clinician will gradually gain new and effective diagnostic procedures for the identification and delineation of the Usher syndromes.
尤塞氏综合征是一种常染色体隐性疾病，表现为听力障碍、色素性视网膜炎（RP）以及不同程度的前庭功能缺损。尤塞氏综合征遗传学特征研究的最新进展表明，这种疾病在表型和遗传方面都很复杂。这一进展影响了临床医生对可能患有尤塞氏综合征患者的研究方法。主要有三种主要的表型类别：尤塞氏I型、II型和III型。尤塞氏I型与尤塞氏II型的区别在于，前者听力障碍更严重且存在前庭反射消失。尤塞氏III型有进行性听力丧失，前庭受累情况不一。已确定至少有三个基因与尤塞氏I型有关；两个基因与尤塞氏II型有关。目前尚不清楚其他表现，如进行性听力丧失、相关的智力迟钝或其他身体异常，是否与已知的尤塞氏基因有关，或者它们是否代表尚未发现的遗传疾病。随着尤塞氏基因鉴定工作的进展，临床医生将逐渐获得用于识别和区分尤塞氏综合征的新的有效诊断方法。
