![]() ![]() RP develops in all three Usher subtypes but with variable onset Usher type 1 is most commonly pre-adolescent, with Usher 2 within the first two decades of life, and Usher 3 patients typically showing post-pubertal onset. Vestibular abnormalities are present in approximately half of the patients. It is typically of a progressive nature, with audiograms showing high frequencies more affected or a U-shaped configuration. In Usher type 3, hearing loss is of post-lingual onset and usually detected in the first decade of life. In Usher type 2, the hearing loss is congenital and typically described as sloping, mild to moderate in the low frequencies, and severe to profound in the high frequencies. Usher type 1 patients exhibit severe to profound bilateral congenital sensorineural hearing loss, most frequently non-progressive, with vestibular areflexia. Atypical presentations have also been described. Usher syndrome is a group of inherited disorders characterised by a combination of sensorineural hearing loss and retinitis pigmentosa (RP). It is categorised into three major clinical subtypes according to the severity and onset of hearing loss and whether vestibular dysfunction is present. Nonsense suppression therapy (pre-clinical).Monitor for cataracts and cystoid macular oedema.Correcting associated refractive errors.Hearing aids fitting in Usher types 2 and 3 patients cochlear implantation in later life if necessary.Cochlear implantation in Usher type 1 patients within first two years of life.Targeted gene panels (retinal and deafness).Newborn hearing screen – otoacoustic emissions and automated auditory brainstem response.Vestibular dysfunction (Usher type 1 and 3).Congenital, mild to moderate in the low frequencies, and severe to profound in the high frequencies (Usher type 2).Congenital, severe to profound (Usher type 1).Difficulties with balance from birth (Usher type 1) or apparent later in life (Usher type 3).Delayed motor development, independent walking age of >18 months (Usher type 1). ![]() ![]() Delayed speech development (Usher type 1).Failed newborn hearing screen (Usher type 1 and 2).Loss of central and colour vision in later life. ![]()
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