Close to 17% may have Usher syndrome, expert says can lead to severe hearing loss and blindness – News9 LIVE


16 Sep 2022 8:56 AM GMT
Usher syndrome affects the eyes (Photo credit: Pexels)
Usher syndrome is a genetic condition that involves both hearing and vision loss. Although rare, the condition is the most frequent cause of deaf-blindness in humans. The hearing loss in children may be mild to complete.
The vision problem called retinitis pigmentosa develops owing to the damage to the retinas of the eyes over time. The retinas have an important role in being able to see and any damage to them results in problems with vision.
Dr Swapnil Brajpuriya, senior consultant and Head Unit (II) ENT Asian Hospital Faridabad told News9 that this condition is passed on from parents to their children. “It is inherited when both parents carry the mutated gene. There is a one in four chance of having a child with Usher Syndrome with each pregnancy when both parents are carriers of an abnormal gene,”Dr Brajpuriya said.

Studies suggest about four to 17 per 100,000 children are born with Usher syndrome, while others believe the true prevalence of Usher syndrome is closer to 17 per cent when considering the total deaf and hard of hearing population. There is a lack of sufficient data on the Usher population in India, however, approximately 78,000 individuals are estimated to be affected by the syndrome.

Type 1: It involves severe hearing loss or deafness along with balance problems in babies. And most don’t start walking until they are 18 months old. Children with type 1 usually experience vision loss around age 10 which gets worse over time.
Type 2: Babies with Usher Syndrome type 2 are born with moderate to severe hearing loss. They usually do not have problems with balance and vision loss begins in the teens and continues to worsen with age.
Type 3: It is very rare with only about two per cent of all cases. In this type, hearing and vision are typical at birth with hearing loss usually beginning in late childhood and vision loss in early to mid-adulthood. Besides, balance problems are also seen in type 3 Usher syndrome.

“The symptoms of the disease are based on the type of Usher syndrome. The condition has several types and sub-types. A person’s sense of balance is coordinated by your eyes and inner ear and any damage to them can result in trouble with balance and coordination. Problems with eyesight are the result of damage to the retinas called retinitis pigmentosa (RP) that gradually leads to loss of eyesight. The first sign of RP is having a difficult vision in low light also called night blindness. The condition gradually becomes worse and eventually leads to blindness,” Dr Brajpuriya explained.
Diagnosis of the syndrome is through screening all newborn babies for hearing problems followed by additional testing in cases where a baby is found to be suffering from any issues with hearing. Further tests for hearing, eyesight, and balance may be carried out to diagnose Usher syndrome which include:
Once a child is diagnosed with the condition, it is followed by genetic testing to know the type of Usher syndrome. “Treatment of the condition depends on the symptoms, age, and general health of the newborn beside the severity of the condition. And while the syndrome has no cure, however spotting it early plays an important role to provide adequate support and education on management,” Dr Brajpuriya said.

It includes Cochlear implants, hearing aids, hearing or auditory training, support for low vision, speech and occupational therapy, orientation, and mobility training to help with balance and counseling to help deal with a long-term health problem. “The hearing, vision, and balance problems may worsen over time and the child will need ongoing care and support, as his or her needs change,” Dr Brajpuriya said.

Usher syndrome is an inherited condition, therefore there is no way to prevent it. However, genetic testing can help determine if you and your partner are carriers of the gene for the syndrome.
A genetic counselor is a right person to help you understand the risks of passing the abnormal gene to your offspring, especially, if hearing loss is a visible trait in your family.
“Screening newborns for hearing has reduced the age of identification of children with hearing loss from 12-18 months to six months or less. And while the genetic disease has no cure, early diagnosis and treatment can help children lead full and active life. Getting the right assistance early on is key to helping your child communicate and stay independent,” Dr Brajpuriya said in conclusion.
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