Edouard Amani Mudekereza, Gloria Nshokano Simba, Sobhi Ahmed Youssef, Christian Amani Muzindusi, Fidele Kabego Kulimushi, Fabrice Murhula Mulumeoderhwa, Christian Balaluka Mulinganya, Deogratias Ngoma Basedeke, Patrick Balungwe Birindwa
Department of Otorhinolaryngology Head and Neck Surgery, Faculty of Medicine, Université Catholique de Bukavu(UCB), Bukavu, Democratic Republic of the Congo.
Otothinolaryngology ward and Ophtamology Ward, Hopital Provincial General de Référence de Bukavu (HPGRB), Bukavu, Democratic Republic of the Congo.
Indian J Otolaryngol Head Neck Surg. 2023 Dec;75(4):4093-4097. doi: 10.1007/s12070-023-03970-4. Epub 2023 Jul 17.
Usher syndrome (USH) is a clinically heterogeneous condition characterized by sensorineural hearing loss, progressive retinal degeneration, and vestibular dysfunction. There are two phenotypically recognizable types of Usher syndrome described in the literature. Usher type 1 individual have no vestibular function and profound sensorineural hearing loss. Usher type 2 individuals have a normal vestibular function and mild-to-severe hearing loss with visual impairment that is presented later in life. We are reporting a case of 35 years old gentleman with hearing loss and visual impairment presented to the ENT clinic at the tertiary care center. Clinical evaluations as well as comprehensive testing of hearing, vestibular function, and visual function have confirmed USH. It's a rare but serious cause of hearing loss that requires comprehensive multidisciplinary evaluation in conjunction with an ophthalmology team. Further genetic, audiological, and vestibular assessments are required to help diagnose and management of specific subtypes of this syndrome.
The online version contains supplementary material available at 10.1007/s12070-023-03970-4.
Usher综合征（USH）是一种临床异质性疾病，其特征为感音神经性听力损失、进行性视网膜变性和前庭功能障碍。文献中描述了两种表型可识别的Usher综合征类型。1型Usher综合征患者没有前庭功能且有严重的感音神经性听力损失。2型Usher综合征患者前庭功能正常，有轻度至重度听力损失，且视力障碍在生命后期出现。我们报告一例35岁男性患者，因听力损失和视力障碍就诊于三级医疗中心的耳鼻喉科诊所。临床评估以及听力、前庭功能和视觉功能的综合检查已确诊为USH。这是一种罕见但严重的听力损失原因，需要与眼科团队联合进行全面的多学科评估。需要进一步的基因、听力学和前庭评估，以帮助诊断和管理该综合征的特定亚型。
在线版本包含可在10.1007/s12070-023-03970-4获取的补充材料。
