Annual otoscopic exam with tympanometry in children with profound loss to evaluate for chronic otitis media. Surveillance: Annual audiometry and tympanometry in those with cochlear implant or hearing aids to assure adequate auditory stimulation. Standard treatments for retinitis pigmentosa. Vestibular compensation therapy for children with residual balance function and sensory substitution therapy for individuals with complete absence of vestibular function. Specialized training from educators of the hearing impaired. Sign language and tactile signs (once visual loss occurs) for families who choose non-auditory communication. Cochlear implantation should be considered as young as medically feasible.
#Usher syndrome type 3 trial#
Treatment of manifestations: In infants: an initial trial of hearing aids to stimulate residual hearing and accustom the infant to auditory stimulation. Possible digenic inheritance has been reported in a few families. Identification of biallelic pathogenic variants in one of six genes – MYO7A, USH1C, CDH23, PCDH15, USH1G, and CIB2 – establishes the diagnosis if clinical features are inconclusive.
The diagnosis of USH1 is established in a proband using electrophysiologic and subjective tests of hearing and retinal function.
RP, a progressive, bilateral, symmetric degeneration of rod and cone functions of the retina, develops in adolescence, resulting in progressively constricted visual fields and impaired visual acuity. Unless fitted with a cochlear implant, individuals do not typically develop speech. Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa (RP).
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