Erfan Khorram, Omid Iravani, Mehdi Khorrami, Masoomeh Amini, Sara Jahanian, Mohammad Hossein Nilforoush, Seyyed Reza Mousavi, Mahsa Ehsanifard, Majid Kheirollahi
INTRODUCTION: Usher syndrome (USH) is an autosomal recessive disorder that predominantly affects hearing, vision, and, in some cases, vestibular function. USH, according to the onset age, severity, and progression of symptoms, is categorized into four main types. In addition, there are a significant number of reports that patients' manifestations deviate from canonical phenotypic criteria of main types of USH, which are named atypical USH. CDH23 is the second most common USH gene in which its defects result in USH1D, non-syndromic autosomal recessive deafness-12 (DFNB12), and in a few cases, atypical USH1D...
April 21, 2023: Audiology & Neuro-otology