Annual ophthalmologic evaluation from age 20 years to detect potentially treatable complications such as cataracts, refractive errors, and cystoid macular edema. Surveillance: Annual audiometry and tympanometry with hearing aids or cochlear implant to assure adequate auditory stimulation. Standard treatments for retinitis pigmentosa vestibular rehabilitation. Children with incomplete speech and sentence rehabilitation with hearing aids and older individuals with severe-to-profound hearing loss should be considered for cochlear implantation. Treatment of manifestations: Early fitting of hearing aids and speech training. Identification of biallelic pathogenic variants in one of three genes – ADGRV1, USH2A, or WHRN – establishes the diagnosis if clinical features are inconclusive. The diagnosis of USH2 is established in a proband using electrophysiologic and subjective tests of hearing and retinal function. Retinitis pigmentosa (RP) progressive, bilateral, symmetric retinal degeneration that begins with night blindness and constricted visual fields (tunnel vision) and eventually includes decreased central visual acuity the rate and degree of vision loss vary within and among families. Usher syndrome type II (USH2) is characterized by the following:Ĭongenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies
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