The paper described a 12yo female with multisystem mitochondrial disorder (MID) due to the compound heterozygous variants c.1963_1964dupAT and p.Ile382Met in OPA1 manifesting phenotypically with congenital nystagmus, developmental delay, visual impairment, gait ataxia, epilepsy, a stroke-like episode (SLE) with encephalopathy and vomiting, and hearing impairment.
These findings indicate that underlying the hearing impairment in patients carrying OPA1 missense mutations is a disordered synchrony in auditory nerve fibre activity resulting from neural degeneration affecting the terminal dendrites.