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Usher syndrome is a rare autosomal recessive genetic illness characterised by sensorineural hearing loss and gradual loss of vision due to retinitis pigmentosa (RP), typically with vestibular balance impairment. It is the most frequent condition affecting sight and hearing in children and the primary cause of deaf-blindness globally.

The syndrome can be divided into three major clinical forms. Type 1 is marked by extensive congenital hearing loss, severe balance problems that lead to delayed walking, and vision abnormalities that appear before age 10, sometimes with night blindness. Type 2 is associated with moderate to severe hearing loss but no balance problems. RP is commonly diagnosed in the late teens. Type 3 is characterised by adequate hearing and balance at birth but gradual hearing loss and vision loss during adolescence, typically culminating in legal blindness in middle adulthood.

Diagnosis includes audiometry, ophthalmologic evaluation, electroretinography (ERG) to confirm RP, and electronystagmography (ENG) to evaluate balance. Genetic testing can identify some mutations that define the subtype.
There is no treatment, but early action is crucial. Treatment may involve cochlear implants or hearing aids, low vision assistance, speech and hearing training, physical and occupational therapy, orientation and mobility training, and counselling. Multidisciplinary care is adapted to the changing needs of the affected individuals. It aims to promote independence and quality of life.