According to the Organization for Rare Diseases India, there is currently no comprehensive data on the prevalence of Usher syndrome in the country, primarily due to limited access to genetic testing. Utilising the prevalence rate of 1 in 17,000 from the USA and India's population of approximately 1.3366 billion in 2017, we estimate that around 78,000 individuals in India may be affected by Usher syndrome. However, this figure is an estimate and not reliable as there are many other factors influencing the prevalence rate.

Usher syndrome is a genetically inherited condition that affects both hearing and vision, characterised by hearing loss or deafness, along with retinitis pigmentosa (RP). RP is a progressive eye disease that leads to vision loss. Individuals with Usher syndrome experience varying degrees of hearing loss, which can range from mild to profound, typically occurring at birth or in early childhood. 

 

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There are three main types of Usher syndrome: 

People with type 1 have:

• Severe hearing loss (can only hear very loud sounds) or deafness from birth
• Night vision loss by age 10, with serious vision loss by middle age
• Balance issues, making it hard to sit up or walk

People with type 2 have:

• Moderate to severe hearing loss in early childhood
• Night vision loss by their teenage years, with serious vision loss by middle age
• Normal balance

People with type 3 have:

• Normal hearing at birth, but hearing loss starts in childhood
• Night vision loss by their teenage years, with serious vision loss by middle age
• Normal balance

However, type 1 and 2 are the most common.

 

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Symptoms of Usher Syndrome

Usher syndrome is characterised by a combination of hearing loss and vision impairment. The specific symptoms can vary depending on the type of Usher syndrome:

• Hearing Loss: This can range from mild to profound. It often begins at birth or in early childhood.
• Retinitis Pigmentosa (RP): A progressive eye disease that leads to night blindness and loss of peripheral vision, eventually resulting in tunnel vision.
• Balance Issues: Particularly in Type 1, individuals may experience difficulty with balance due to inner ear dysfunction.

 

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Signs of RP in Children:

• Difficulty moving around in the dark
• Taking longer to adjust to changes in lighting
• Tripping over objects

Signs of RP in Children In Adults:

• RP can make everyday tasks challenging, such as walking, driving, and reading.

 

Causes of Usher Syndrome

Usher syndrome is caused by genetic mutations that affect both hearing and vision. It is usually inherited in an autosomal recessive pattern, meaning a person needs to inherit two copies of the mutated gene—one from each parent—to develop the syndrome. There are 9 different genes that can cause Usher syndrome.

 

Diagnosis of Usher Syndrome

Usher syndrome is diagnosed through a combination of tests and evaluations, including:

• Hearing Tests: Audiometry tests to assess the level of hearing loss.
• Eye Examinations: Comprehensive eye exams, including visual field tests and retinal imaging, to check for signs of retinitis pigmentosa (RP).
• Family History: A review of family medical history to identify any patterns of hearing or vision loss.
• Genetic Testing: Blood tests to look for specific genetic mutations associated with Usher syndrome. This can help confirm the diagnosis and identify the type of Usher syndrome.

 

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Diagnosis of Usher Syndrome in Children: ENG and ERG Testing

In diagnosing Usher syndrome in children, two important tests are Electronystagmography (ENG) and Electroretinography (ERG).

• Electronystagmography (ENG): This test checks eye movements to assess balance. Electrodes are placed around the eyes to record how they move in response to different stimuli. Abnormal eye movements can indicate balance problems, which are common in Type 1 Usher syndrome.
• Electroretinography (ERG): This test measures the retina's response to light. The child wears electrodes while flashing lights are shown. The results help determine if the retina is functioning properly, which is important for diagnosing retinitis pigmentosa (RP), a key feature of Usher syndrome.

Together, ENG and ERG testing, along with hearing tests and genetic testing, provide a complete view of a child's hearing and vision. 

 

Prognosis of Usher Syndrome

The prognosis of Usher syndrome varies depending on the type and severity of symptoms, but it generally involves a gradual progression of both hearing and vision loss over time.
Prognosis by Type:

• Type 1: Individuals typically experience profound hearing loss at birth and lose night vision by age 10. Most will develop significant vision loss and may face challenges with balance. Early intervention can help, but the prognosis often includes substantial challenges in daily living as the condition progresses.
• Type 2: Hearing loss is moderate to severe and begins in early childhood, with night vision loss occurring in the teenage years. Although individuals usually maintain better balance, they will still experience progressive vision loss. With appropriate support, many can adapt well and maintain a good quality of life.
• Type 3: This type features normal hearing at birth, with hearing loss that starts later in childhood. Night vision loss occurs in the teenage years, but balance typically remains normal. The prognosis can be more favourable in terms of maintaining hearing and a degree of vision longer into life, but individuals will still face challenges.

 

Treatment and Management of Usher Syndrome

Managing Usher syndrome involves addressing both hearing loss and vision loss, as there is currently no cure. Here are some common approaches:

Hearing Management:

• Hearing Aids: Many individuals benefit from hearing aids to amplify sound.
• Cochlear Implants: For those with severe to profound hearing loss, cochlear implants may be an option.
• Sign Language and Communication Strategies: Teaching sign language or using other communication methods can help improve communication.

Vision Management:

• Low Vision Aids: Devices like magnifiers, special glasses, and adaptive technologies can help maximise remaining vision.
• Orientation and Mobility Training: This training helps individuals learn to navigate safely in different environments.
• Support Groups and Resources: Connecting with organisations and communities focused on vision loss can provide valuable support.

 

How Usher Syndrome Impacts Children?

Usher syndrome can significantly impact children as it affects their hearing, vision, and balance, often leading to progressive challenges over time. As their needs evolve, ongoing care and support are essential. Many children with Usher syndrome may experience difficulties in language development, social interactions, and cognitive skills due to the combination of their disabilities.
Early intervention is crucial; accessing support services and therapies can help improve communication and social skills. Regular follow-up appointments with audiologists and ophthalmologists are necessary to monitor the progression of symptoms. Additionally, understanding their rights to educational support and reasonable accommodations in public schools is vital. This knowledge empowers families to advocate for the resources and adaptations that can facilitate a successful educational experience.

 

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