Usher Syndrome

Causes of Usher Syndrome

Usher Syndrome is caused by mutations in specific genes inherited from both parents. These genes control the function of cells in the eyes and ears. If both parents carry the mutated gene, there is a higher chance that their child will inherit Usher Syndrome.

The primary genes involved are:

• MYO7A
• USH2A
• USH1C

These genetic mutations disrupt the function of photoreceptor cells in the retina, leading to progressive vision loss, and also impact hair cells in the inner ear, causing hearing loss.

Types of Usher Syndrome

Usher Syndrome is classified into three main types, based on the severity and onset of symptoms:

• Type 1: Profound deafness at birth and progressive vision loss during early childhood. Balance issues are common.
• Type 2: Moderate hearing loss from birth with gradual vision loss, typically starting in adolescence.
• Type 3: Normal hearing at birth, but both hearing and vision deteriorate over time. Symptoms often appear later in life.

Symptoms of Usher Syndrome

The symptoms of Usher Syndrome vary depending on the type, but the key symptoms include:

• Hearing loss: Varies from mild to profound, depending on the type.
• Vision loss: Gradual loss of peripheral vision due to retinitis pigmentosa, which can eventually lead to tunnel vision.
• Balance problems: Common in Type 1, leading to delays in walking and coordination issues.

As the condition progresses, patients may also experience night blindness, reduced field of vision, and difficulty with tasks that require fine vision.

Diagnosis of Usher Syndrome

Diagnosis of Usher Syndrome typically involves a combination of hearing tests, vision tests, and genetic testing.

• Hearing tests: Audiometry tests to determine the degree of hearing loss.
• Vision tests: Eye examinations, including visual field testing and retinal imaging, to detect retinitis pigmentosa.
• Genetic testing: Identifies mutations in the genes associated with Usher Syndrome, confirming the diagnosis.

Early diagnosis is essential for creating a treatment plan that can help manage symptoms and slow down progression.

Treatment for Usher Syndrome

Currently, there is no cure for Usher Syndrome, but treatments focus on managing symptoms and improving quality of life. Dr. Suraj Munjal offers a comprehensive approach, which includes:

• Hearing aids and cochlear implants: To address hearing loss and improve communication.
• Low vision aids: Devices that help enhance vision and daily functioning.
• Retinal gene therapy: In some cases, experimental gene therapies may be available to slow the progression of retinitis pigmentosa.
• Balance therapy: Physical therapy exercises to help patients with balance issues.
• Counseling and support: Psychological and emotional support for patients and families dealing with progressive vision and hearing loss.

Cost of Usher Syndrome Treatment and Stay in India

India is known for providing high-quality medical care at a fraction of the cost compared to Western countries. The cost of treating Usher Syndrome in India can vary depending on the type of interventions required (e.g., hearing aids, cochlear implants, or specialized therapies). Dr. Suraj Munjal and his team can provide personalized treatment plans and cost estimates during consultations.