(2) Identification of biallelic variants of uncertain significance (or of one known pathogenic variant and one variant of uncertain significance) in one of the genes listed in Table 1 does not establish or rule out the diagnosis. Reference to "pathogenic variants" in this section is understood to include any likely pathogenic variants. Note: (1) Per ACMG/AMP variant interpretation guidelines, the terms "pathogenic variants" and " likely pathogenic variants" are synonymous in a clinical setting, meaning that both are considered diagnostic and both can be used for clinical decision making. Identification of biallelic pathogenic (or likely pathogenic) variants in one of the genes listed in Table 1 establishes the diagnosis if clinical features are inconclusive. The diagnosis of USH2 is established in a proband with the above clinical features and family history. Progressive loss of peripheral vision impairs the ability to safely drive a car.Įvaluation of relatives at risk: The hearing of at-risk sibs should be assessed as soon after birth as possible to allow early diagnosis and treatment of hearing loss.
#Type 2 usher syndrome full#
Competition in sports requiring a full range of vision may be difficult and possibly dangerous. Annual fundus photography, visual acuity, visual field, electroretinography, optical coherence tomography, and fundus autofluorescence from age ten years.Īgents/circumstances to avoid: Tunnel vision and night blindness can increase the likelihood of accidental injury. 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.
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