What is the Usher syndrome?

Individuals diagnosed with Type 1 Usher's Syndrome are born with severe to profound hearing loss and typically face balance challenges from a young age. Vision difficulties, primarily night blindness and a decline in peripheral vision, commence during childhood and gradually intensify.

• Hearing: individuals experience severe to profound hearing loss at birth, often necessitating cochlear implants or the use of sign language for effective communication.
• Vision: retinitis pigmentosa manifests early, resulting in night blindness and loss of peripheral vision.
• Balance: significant balance problems arise due to vestibular dysfunction, causing delays in reaching motor milestones such as sitting and walking.

Type 2 Usher's Syndrome is defined by moderate to severe hearing loss present at birth, accompanied by progressive vision deterioration that typically begins in adolescence or early adulthood. Balance is generally unaffected.

• Hearing: individuals experience moderate to severe hearing loss from birth, which is often managed with hearing aids.
• Vision: vision loss progresses due to retinitis pigmentosa, usually commencing during adolescence or early adulthood, impacting night vision and peripheral vision.
• Balance: balance functions are typically normal, with no notable vestibular complications.

Type 3 Usher's Syndrome is a rarer form of the condition, characterised by progressive hearing and vision loss that may commence at any point from childhood through to adulthood. Balance difficulties can also arise as the condition progresses.

• Hearing: hearing loss develops progressively and can begin during childhood, adolescence, or adulthood, often resulting in severe hearing impairment.
• Vision: the onset of retinitis pigmentosa is variable, with symptoms potentially appearing from late childhood to adulthood, leading to night blindness and loss of peripheral vision.
• Balance: individuals may experience progressive balance issues at any stage, impacting their mobility and coordination.

Usher's Syndrome presents varying degrees of hearing impairment across its different types.

• In Type 1, individuals experience severe to profound hearing loss from birth, often requiring interventions such as cochlear implants or the use of sign language for effective communication.
• Type 2 is characterised by moderate to severe hearing loss from birth, typically managed with hearing aids.
• In Type 3, progressive hearing loss may begin in childhood, adolescence, or adulthood, potentially leading to severe impairment over time. 

These hearing challenges significantly impact the communication skills and social interactions of those living with Usher's Syndrome.

A key characteristic of Usher's Syndrome is retinitis pigmentosa, a degenerative eye disorder that leads to progressive vision loss, primarily affecting peripheral and night vision. As the condition advances, individuals may develop tunnel vision and, in severe instances, may become completely blind.

The degree of vision impairment varies across the different types of Usher's Syndrome: Type 1 typically exhibits earlier onset and more severe visual decline compared to Types 2 and 3.

Individuals with Type 1 Usher's Syndrome frequently experience considerable balance difficulties due to vestibular dysfunction. This can result in delays in the development of motor skills, such as sitting and walking, which in turn impacts daily activities and overall mobility. Although balance issues are less pronounced in Types 2 and 3, they may still develop progressively as the condition advances.