Table 4.

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

System/ConcernEvaluationComment
Audiology Otoscopy, pure tone audiometry, assessment of speech perceptionConsider ABR, ECOG, & DPOAE.
Vestibular
function 		Rotary chair, VNG incl calorics, & computerized posturographyConsider VHIT, vestibular evoked myogenic potentials (cVEMP & oVEMP).
Ophthalmology Fundus photography, VA, VF (Goldmann perimetry, Humphrey perimetry, dark-adapted rod perimetry), ERG, OCT, & FAF
  • Fundus photography documents the extent of pigmentation & retinal/RPE atrophy.
  • VA is often maintained until late in the disease.
  • VF maps the extent of functional peripheral vision, retinal sensitivities, & functional rod & cone responses.
  • ERG is often nondetectable at presentation.
  • OCT allows the determination of "live" photoreceptors (measuring the ellipsoid zone).
  • FAF can measure the perifoveal hyperfluorescent ring, & lipofuscin disturbance.
Other Consultation w/clinical geneticist &/or genetic counselor

ABR = auditory brain stem response; DPOAE = distortion product otoacoustic emission; ECOG = electrocochleography; ERG = electroretinography; FAF = fundus autofluorescence; OCT = optical coherence tomography; RPE = retinal pigment epithelium; VA = visual acuity; VF = visual field; VHIT = vestibular head impulse testing; VNG = videonystagmography

From: Usher Syndrome Type I

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