Cochlear implantation is a relevant risk factor for damage of peripheral vestibular receptor function. Therefore, preservation not only of residual hearing function but also of vestibular function should be aimed for, by using minimally invasive surgical techniques.

ObjectivesTill date, mutations in the genes PAX3 and MITF have been described in Waardenburg syndrome (WS), which is clinically characterised by congenital hearing loss and pigmentation anomalies. Our study intended to determine the frequency of mutations and deletions in these genes, to assess the clinical phenotype in detail and to identify rational priorities for molecular genetic diagnostics procedures.DesignProspective analysis.Patients19 Caucasian patients with typical features of WS underwent stepwise investigation of PAX3 and MITF. When point mutations and small insertions/deletions were excluded by direct sequencing, copy number analysis by multiplex ligation-dependent probe amplification was performed to detect larger deletions and duplications. Clinical data and photographs were collected to facilitate genotype–phenotype analyses.SettingAll analyses were performed in a large German laboratory specialised in genetic diagnostics.Results15 novel and 4 previously published heterozygous mutations in PAX3 and MITF were identified. Of these, six were large deletions or duplications that were only detectable by copy number analysis. All patients with PAX3 mutations had typical phenotype of WS with dystopia canthorum (WS1), whereas patients with MITF gene mutations presented without dystopia canthorum (WS2). In addition, one patient with bilateral hearing loss and blue eyes with iris stroma dysplasia had a de novo missense mutation (p.Arg217Ile) in MITF. MITF 3-bp deletions at amino acid position 217 have previously been described in patients with Tietz syndrome (TS), a clinical entity with hearing loss and generalised hypopigmentation.ConclusionsOn the basis of these findings, we conclude that sequencing and copy number analysis of both PAX3 and MITF have to be recommended in the routine molecular diagnostic setting for patients, WS1 and WS2. Furthermore, our genotype–phenotype analyses indicate that WS2 and TS correspond to a clinical spectrum that is influenced by MITF mutation type and position.

Exposing patients to the risk of possible balance disorders associated with cochlear implantation is justified in view of the hearing rehabilitation achieved, even with today's broader indications for cochlear implantation. However, patients should in any case be informed about the possibility and quality of post-operative vertigo symptoms.

Although CI can cause damage to sacculus and hSCC function, this is probably not the only cause for postoperative vertigo. Advanced age is a significant risk factor for vertigo after CI.

The objective of this study was to assess the influence of a cochlear implant (CI) on horizontal semicircular canal (hSCC) function, to test the correlation with symptomatic vertigo and to identify possible risk factors for a postoperative vestibular impairment. In a prospective observational study design, forty-seven adult patients who had undergone cochlear implantation at Cochlear Implant Center at a tertiary referral university hospital, Munich, between 2003 and 2007, were studied. Postoperative vertigo symptoms were assessed using a questionnaire followed by a structured interview. Patients were subjected to caloric and rotational chair vestibular function tests pre- and postoperatively. The CI operation was performed with a retroauricular transmastoidal approach by three different surgeons. Thirty-six implants were Cochlear Nucleus 24 devices and 11 implants were MedEl devices. Twenty-one (45%) patients reported vertigo symptoms after CI. Functional testing of the hSCC yielded valid results in 45 of the 47 patients. Thirty-two percent of patients had a substantially reduced hSCC function after CI. Responses of caloric irrigation showed a significant worsening postoperatively in the CI ears. No direct correlation between a decrease in caloric response and risk of postoperative vertigo symptoms could be established. For the criteria age, sex, implant type, surgeon, cause of deafness, petrous bone CT findings and preoperative vertigo, there were no significant differences between the patients with and the patients without postoperative vertigo. Besides morphological changes, a cochlear implantation also causes functional damage of vestibular parts of the labyrinth. Our study showed a significant worsening of the caloric response. However, this alteration did not lead to vertigo complaints in all patients. It is therefore presumed that additional damage to sensory or visual afferents and central vestibular compensatory mechanisms play a role.