Usher syndrome is a rare genetic disorder that affects both hearing and vision. It causes an eye condition known as retinitis pigmentosa (RP).
Retinitis pigmentosa occurs when the retina deteriorates over time, causing a gradual loss of vision. When a patient is diagnosed with retinitis pigmentosa, they become 'night blind,' meaning that they cannot see in dim light at first. Their visual field becomes progressively smaller over time, eventually leading to tunnel vision (similar to looking through a straw).
While there is no cure for this condition, there are ways that can help prevent progression, as well as make daily life easier for you.
Low-vision device may be helpful for you if you have Usher syndrome, particularly retinitis pigmentosa. You can maximize your remaining vision with the help of low vision aids and vision rehabilitation services. You can maintain your independence by using low vision assistive devices prescribed by our low vision optometrists so that you can read, write, navigate maps, watch television, walk safely around your home, drive and recognize the faces of your loved ones.
Following are a number of low vision devices you can use to cope with vision loss from retinitis pigmentosa, including:
There are several types and subtypes of this syndrome. The symptoms of Usher syndrome vary based on its type. The syndrome may cause the following symptoms:
Children born with type I of Usher syndrome begin to lose their vision as a result of Retinitis Pigmentosa (RP). It appears during pre-adolescence (around age 10).
In this type, vision loss typically occurs later (in teens and young adults) and progresses more slowly than in Type I.
Children born with Type III usually begin to show symptoms during their teenage years. Vision loss varies in severity from individual to individual.
A person with this condition is affected from birth, but they are diagnosed during their childhood or teenage years. An optometrist uses various imaging tests during a vision exam to diagnose Usher syndrome. The most commonly used are described below:
There is currently no cure for Usher syndrome or for retinitis pigmentosa (RP). Usher syndrome is treated based on the specific symptoms that each patient exhibits.
The treatment may involve the coordination of efforts of a number of medical professionals, including pediatricians, internists, otolaryngologists, audiologists, optometrists, specifically low vision optometrists among others.
Vitamin A has been found to slow the progression of certain forms of retinitis pigmentosa, but high intake of vitamin A may lead to worsening of other eye conditions. You can discuss the risks and benefits of Vitamin A with our eye doctor and learn how much Vitamin A you should take safely. A high intake of vitamin A can be harmful, and vitamin A is not proven to affect retinitis pigmentosa (RP) progression significantly. Consequently, vitamin A supplements are not recommended at the present time.
Many forms of RP and Usher syndrome are being subjected to gene therapy trials. FDA approved the first gene therapy for RP (linked to the RPE65 gene) in 2017. During this treatment, a normal copy of the disease-causing gene is implanted inside the retina. As a result of the normal gene, the retina works more efficiently.
Here are some suggestions and strategies that may help patients succeed academically:
If you wish to maintain your independence every day and do the tasks you wish, such as reading, using a computer, or your smartphone, cooking, or walking safely, your low vision optometrist can help you find the best low vision device for your needs. After a low vision exam, they will prescribe the best advanced low vision aids to maximize your vision.