Cochlear implantation for progressive hearing loss caused by an A8296G mutation in mitochondrial DNA

Mitochondrial DNA mutations such as A3243G or A1555G are widely reported to cause hearing loss, but few reports exist on the A8296G mutation, which can also cause hearing loss. This report presents the case of a patient with the A8296G mutation and severe bilateral sensorineural hearing loss (SNHL) that progressed over two decades. The patient had no history of diabetes, but did have a family history of SNHL in her father and maternal grandmother. She was first diagnosed with SNHL at 45 years of age, and an A8296G mutation was found. The hearing threshold in the low-frequency range of the right ear was preserved at diagnosis, but eventually declined resulting in severe bilateral hearing loss by the age of 66 years, and cochlear implantation (CI) was performed in the left ear. The hearing threshold three months after CI was 25-45 dB HL, and the phoneme speech discrimination score in the left ear improved from 20% without CI to 74% with CI. SNHL patients with the A8295G mutation are good candidates for treatment with CI.