An inherited disorder that often causes vision loss (blindness) or hearing loss (deafness) is called Usher syndrome. Generally, there are 3 types of this condition, and each one causes different symptoms and develops individually. While some people may develop moderate to severe symptoms, it often does not affect life expectancy.
This syndrome usually occurs due to a genetic mutation (change) that affects hearing and vision development during pregnancy. Sometimes, symptoms of this condition may appear during adulthood.
However, this is not a common condition because it affects about 3 to 6 people out of every 100,000.
Types of Usher Syndrome
Nowadays, there are 10 known genetic mutations that cause this syndrome. People may develop different types because it depends on the combination of gene changes. However, all types of this condition cause hearing, balance, and vision problems. For example:
- 1 – The first type of this syndrome causes deafness and blindness at birth (congenital). Moreover, some babies may also have balance problems, especially when they begin to walk.
- 2 – In infants with the second type of this syndrome, moderate to severe hearing loss occurs, and vision problems occur during the teen years. However, they do not develop balance problems. The symptoms may worsen as the affected person gets older.
- 3 – The last type of this condition usually happens very rarely. In most cases, it does not cause vision or hearing problems right after birth, but these symptoms may begin in late childhood or early adulthood.
Symptoms
These include:
- Deafness – Most infants born with Usher syndrome are deaf or have severe hearing problems. Sometimes, this symptom may appear in early adulthood.
- Blindness – People with Usher syndrome usually develop vision problems due to a condition called retinitis pigmentosa (RP). The most common symptom of RP is difficulty seeing in low light (also known as night blindness). When the condition worsens, it may cause tunnel vision that may lead to blindness.
- Problems with balance – This symptom usually occurs in children who develop the first type of this syndrome.
If your child has any of the previous symptoms, immediately contact your healthcare professional.
Causes
This is a genetic disorder that passes from both biological parents to their biological children. However, some studies have shown that these genetic mutations affect people in different ways. These include:
- Deafness happens when genetic changes affect the nerves in the cochlea of the inner ear of the child. As a result, these nerves cannot transmit signals to the brain properly.
- When these abnormal genes cause the retina cells to mutate, the child will develop retinitis pigmentosa. Generally, genes affect the retina’s light-sensing cells (also known as rods and cones).
Furthermore, all types of Usher syndrome are inherited in an autosomal recessive pattern. It means the child develops this syndrome only when he/she get the abnormal genes from both biological parents. Sometimes, children who inherit this condition do not experience any symptoms.
Risk Factors
Healthcare professionals have identified some factors that could increase the risk of developing this syndrome. Examples include:
- When both biological parents carry genes that cause this syndrome, there is about a 25% chance that your child will develop Usher syndrome.
- If children receive one healthy gene and one mutated gene from their biological parents, it is less probably they will develop this syndrome. However, they will carry the abnormal gene, which may also be passed to their children in the future.
What Are The Possible Complications of Usher Syndrome?
Those who develop this inherited disorder may also experience some complications. Check below some examples:
- Progressive vision and hearing loss
- Vestibular dysfunction
- Stress
- Mental health problems (such as depression, social isolation, anxiety, and others)
This article does not contain a full list of Usher syndrome complications. However, you can talk with your doctor about ways to reduce the risk of previous complications.
Unfortunately, there is no way to prevent this condition. However, you can perform some genetic tests before pregnancy to understand the risks of having a child with Usher syndrome.
Diagnosis
Physicians usually diagnose this condition by performing genetic counseling or genetic tests to determine whether your child has the abnormal genes that cause Usher syndrome. When doctors identify vision or hearing problems, they may order additional tests. For example:
- Hearing tests – These tests are often done to check the child’s hearing. It involves multiple sounds and frequencies and examinations of the ear.
- Vision tests – Doctors usually perform a vision test to determine the damage to the retina in children who develop retinitis pigmentosa. Moreover, they may also perform some tests to check peripheral vision that may lead to balance problems.
Treatment
Physicians usually prescribe different treatments for people with Usher syndrome because it depends on several factors. These include the severity and type of condition, existing health problems, age, and preferences. Check below some treatments that are usually recommended by doctors:
- Cochlear implants – These implants help newborns improve their hearing problems.
- Hearing aids – Doctors may also recommend hearing assistive technology that is effective for babies with the second and third types of this syndrome.
- Vision aids – Physicians usually prescribe assistive devices to improve vision problems. They often recommend eyeglasses with specific lenses that filter light or magnify objects.
- Early intervention services
Frequently Asked Questions
What is the prognosis for Usher syndrome?
Usually, most diagnosed Usher syndromes worsen over time, and in severe cases, people experience complete vision or hearing loss. In mild and moderate cases, people may not experience symptoms or have only mild ones. Furthermore, those who develop type 1 Usher syndrome may also have balance problems.
Unfortunately, this health condition cannot be cured. That’s why treatment focuses on lessening the symptoms and preventing serious complications.
What is the life expectancy for Usher syndrome?
Commonly, this condition does not affect life expectancy. It means those who develop this condition can live similarly to a person without this condition.
What is the most common ethnicity in Usher syndrome?
Mostly, this genetic disorder is diagnosed in certain ethnic groups, including Acadian/French ancestry, Finnish heritage, and Ashkenazi Jews. Ask your healthcare professional if you have any other questions.
