Clinical evaluation and genetic testing of five patients with Usher syndrome

DOI
  • Kobayashi Yumiko
    Department of Otolaryngology, Morioka Municipal Hospital, Morioka Department of Otolaryngology, Iwate Medical University, Morioka
  • Murai Seiko
    Department of Otolaryngology, Morioka Municipal Hospital, Morioka
  • Sato Hiroaki
    Department of Otolaryngology, Iwate Medical University, Morioka
  • Yoshimura Hidekane
    Department of Otolaryngology, Graduate School of Medicine, Shinshu University School of Medicine
  • Usami Shin-ichi
    Department of Otolaryngology, Graduate School of Medicine, Shinshu University School of Medicine
  • Iwasaki Satoshi
    Department of Hearing Implant Sciences, Shinshu University School of Medicine

Bibliographic Information

Other Title
  • アッシャー症候群の5症例

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Description

Usher syndrome (US) is a genetic disorder resulting in sensorineural hearing loss and retinitis pigmentosa (RP). We performed hearing tests, balance tests, and genetic tests for 5 patients with bilateral sensorineural hearing loss of unknown cause complicated by RP. Two patients with severe hearing loss and bilateral vestibular hypofunction in balance tests were considered as US type 1. Two patients presented with congenital moderate sensorineural hearing loss associated with RP were classified as US type 2. One patient showing progressive hearing loss from middle age was considered as US type 3. In genetic tests, MYO7A mutation was identified in 2 patients with US type 1. and this result was consistent with their clinical symptoms. One of these 2 patients had undergone cochlear implant surgery and later diagnosed with RP. As shown in these cases, the first symptom of Usher syndrome appears as impaired hearing, and the symptoms of RP are manifesting later. Therefore, it is necessary to pay attention to the initial symptoms of RP, such as night blindness and visual field constriction, in patients with congenital sensorineural hearing loss. Genetic tests are considered useful in establishing the definitive diagnosis.

Journal

  • Otology Japan

    Otology Japan 24 (1), 39-43, 2014

    Japan Otological Society

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