Usher syndrome is a rare, autosomal-recessive inherited syndrome of sensorineural hearing loss and progressive vision loss (retinitis pigmentosa) due to mutations in the ADGRV1 (GPR98, VLGR1), CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, or USH2A gene. There are 3 distinct types of Usher syndrome and multiple subtypes. Onset is typically in childhood, with varying degrees of hearing loss. Progressive vision loss begins typically in adolescence. Findings include vestibular dysfunction, night blindness, and constricted visual fields (tunnel vision) due to progressive retinitis pigmentosa that eventually leads to total blindness in the more severe types.
Early intervention includes hearing aids, cochlear implant, early speech therapy, and filtered lenses. Testing of family members can allow for early diagnosis and intervention in families known to carry the traits.
ICD10CM: Q89.7 – Multiple congenital malformations, not elsewhere classified