Performance Results and Timing of Cochlear Implantation in Patients With DFNA9 (p.Pro51Ser)

To evaluate long-term outcomes of cochlear implantation (CI) in DFNA9 patients with the p.Pro51Ser COCH variant, compared with matched controls, and to identify clinical predictors of performance and quality of life (QoL). BACKGROUND: DFNA9, caused by pathogenic variants in the COCH gene, is a progressive hereditary hearing loss with variable vestibular dysfunction that often necessitates cochlear implantation.

DFNA9 (p.Pro51Ser) patients can achieve cochlear implant outcomes comparable to matched controls, but timing relative to disease progression matters; clinicians managing this genotype should consider implantation before severe deterioration of residual function.

Long-term outcome data for a specific DFNA9 genotype strengthen the evidence base for cochlear implant candidacy decisions in genetically defined progressive hearing loss.

1. 01Long-term cochlear implant outcomes evaluated in DFNA9 p.Pro51Ser patients vs. matched controls.
2. 02Timing of implantation relative to disease progression identified as a key performance predictor.
3. 03Provides genotype-specific evidence to guide CI candidacy decisions in DFNA9.
4. 04Results published in Otology & Neurotology, a leading surgical subspecialty journal.
5. 05Study highlights value of genetic diagnosis in planning cochlear implant timing.

PMID

42259506

DOI

10.1097/MAO.0000000000004969.

Journal

Otology & Neurotology

Publication type

research_article

Evidence level

3

Population

Patients with DFNA9 progressive hearing loss carrying the p.Pro51Ser COCH variant

Intervention

Cochlear implantation

Comparator

Matched cochlear implant recipients without DFNA9