Table 5. [Recommended Evaluations Following Initial Diagnosis in Individuals with Usher Syndrome Type II]. - GeneReviews®

System/Concern	Evaluation	Comment
Audiology	Otoscopy, puretone audiometry, assessment of speech perception	Consider 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.
Vestibular function	Rotary chair, calorics, electronystagmography, ocular & cervical myogenic evoked potentials, video head impulse testing, computerized posturography	Persons 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, FAF	Fundus 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.
Genetic counseling	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: Community or online resources such as Parent to Parent; Social work involvement for parental support.

System/Concern

Evaluation

Comment

Audiology

Otoscopy, puretone audiometry, assessment of speech perception

Consider 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.

Vestibular
function

Rotary chair, calorics, electronystagmography, ocular & cervical myogenic evoked potentials, video head impulse testing, computerized posturography

Persons 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, FAF

Fundus 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.

Genetic
counseling

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:

Community or online resources such as Parent to Parent;
Social work involvement for parental support.

From: Usher Syndrome Type II

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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