Table 5.

Recommended Evaluations Following Initial Diagnosis in Individuals with Usher Syndrome Type II

Audiology Otoscopy, puretone audiometry, assessment of speech perceptionConsider auditory brain stem response (ABR), electrocochleography (ECOG), and distortion product otoacoustic emission (DPOAE). Speech and sentence tests with hearing aids will determine if cochlear implantation offers better rehabilitation than hearing aids.
Rotary chair, calorics, electronystagmography, ocular & cervical myogenic evoked potentials, video head impulse testing, computerized posturographyPersons describing imbalance or dizziness should undergo comprehensive vestibular testing to guide rehabilitation.
Ophthalmology Fundus photography, VA, VF (Goldmann perimetry, Humphrey perimetry, Dark adapted rod perimetry), ERG, OCT, FAFFundus photography documents extent of pigmentation & RPE atrophy; VA is often maintained until late in disease; VF maps extent of functional peripheral vision, retinal sensitivities, & functional rod & cone responses. ERG is often nondetectable at presentation; OCT allows determination of "live" photoreceptors (measuring the ellipsoid zone); FAF can measure the perifoveal hyperfluorescent ring lipofuscin disturbance.
By genetics professionals 1

To inform affected individuals & families re nature, MOI, & implications of USH2 in order to facilitate medical & personal decision making

Family support
& resources
Assess need for:

ERG = electroretinography; FAF = fundus autofluorescence; OCT = optical coherence tomography; RPE = retinal pigment epithelium; VA = visual acuity; VF = visual field; MOI = mode of inheritance


Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Usher Syndrome Type II

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