Research findings on OPA1-associated hearing loss characterized by hearing loss and optic atrophy have been published !
- Shin-ya Nishio
- 1 day ago
- 1 min read
The OPA1 gene is responsible for DOA plus syndrome, which is characterized by hearing loss—particularly Auditory Neuropathy Spectrum Disorder—and optic atrophy. Previous studies have mainly focused on optic atrophy, and there have been few reports describing the detailed clinical characteristics of hearing loss associated with this condition.
In this study, we analyzed 18,475 Japanese patients with hearing loss and performed detailed clinical evaluations of 10 individuals carrying OPA1 variants. Through these analyses, we were able to clarify the rate of progression of hearing loss associated with OPA1 variants.
In addition, we reported a case in which Cochlear implant treatment was effective for patient with OPA1-associated hearing loss.
Figure: Relationship between age and average hearing level in cases with OPA1-associated hearing loss.
Kawakita M, Moteki H, Nishio SY, Kobayashi Y, Adachi M, Okano T, Yamazaki H, Nakayama J, Ohira S, Ishino T, Takumi Y, Usami SI. Frequency and Hearing Loss Phenotypes of OPA1 Variants in a Cohort of 18,475 Patients with Hearing Impairment. Genes (Basel). 2026;17(3):341.
Comments