Usher Syndrome in Children
What Is Usher Syndrome?
Usher syndrome is a hereditary syndrome characterized by hearing loss and retinitis pigmentosa (RP).
Hearing loss may be profound at birth (Usher syndrome Type 1), moderate to severe at birth (Usher syndrome Type 2), or may be nonexistent at birth but decline over time (Usher syndrome Type 3). To learn more about the three types of Usher syndrome, read Facts About Usher syndrome by the National Eye Institute.
Retinitis pigmentosa (RP) is a condition affecting the retinas, light-sensitive nerve tissue lining the back of the eyes. The retina contains photoreceptor cells that convert incoming light into electrical impulses which are carried to the brain and interpreted as visual images. There are two types of photoreceptor cells: the rods, which more densely cover the peripheral, or outlying, portion of the retina and are responsible for peripheral vision and vision in low light as well as the cones, which more densely cover the central portion of the retina and are responsible for color perception, sharp visual acuity (detailed vision), and central vision.
RP typically deteriorates the rods, followed by the cones. The degeneration progresses over time and can lead to total blindness.
For a more detailed description of RP, visit VisionAware’s guide to RP.
How Is Usher Syndrome Diagnosed?
With Usher syndrome Type 1 and Type 2, hearing loss will be detected at a routine newborn screening. After hearing loss has been diagnosed, genetic testing can reveal a diagnosis of Usher syndrome.
With Usher syndrome Type 3, hearing loss will be detected in late childhood or adolescence and diagnosed by an audiology examination.
In all types of Usher syndrome, vision loss will be detected when your child has difficulty navigating or seeing in dimly lit environments or if he or she is beginning to routinely bump into low-lying, side-lying, or overhanging objects. Your child’s vision and eye anatomy should be evaluated by an ophthalmologist.
If visual field testing or a dilated eye examination detect degeneration of the rods and cones, the child will be given a diagnosis of RP. When accompanied with hearing loss, your child will be given a diagnosis of Usher syndrome.
Additionally, if a family member has a diagnosis of Usher syndrome, your child’s hearing, peripheral vision, and eyes should be examined by an audiologist and ophthalmologist. Genetic testing is also available to help determine an early diagnosis. An early diagnosis enables a person with the disease to prepare for its progression.
Are There Treatments for Usher Syndrome?
There is currently no cure for Usher syndrome; however, hearing aids or cochlear implants may help your child’s hearing, and some ophthalmologists believe that treatment with high doses of Vitamin A can slow the progression of RP.
It is important to protect the eyes from further damage from the sun by using quality sunglasses and a hat while outdoors in the daytime.
To learn about current research advances for RP treatment, including gene therapy and drug clinical trials, read Foundation Fighting Blindness: Retinitis Pigmentosa Research Advances.
How Would You Describe the Eyesight of One with Usher Syndrome and How Will My Child Function with It?
Before discussing the visual symptoms of Usher syndrome, it is imperative to understand the emotional impact of diagnosis. Likely your child is a teenager, already in a turbulent season of life, when he or she hears, “You are losing your vision and may go blind in addition to your hearing loss.” Encourage your child to identify all feelings instead of suppressing them, connect with other teens or adults with Usher syndrome, and utilize professional counseling. There is life beyond hearing and vision loss, though it may take much grieving (occurring all over again when vision noticeably deteriorates) and time before the entire family recognizes it.
One with Usher syndrome will have to work with probable balance issues, difficulty communicating with the general population, and will have to intentionally combat social isolation. Your child’s educational team of professionals will assess your child and implement strategies to help your child function despite these difficulties. Strategies and tools may include sign language, use of a support cane, and use of communication technology.
To learn about your child’s hearing loss, please visit Hearing Loss Association of America.
Regarding your child’s visual impairment, RP typically manifests with poor vision in dimly lit environments, termed “night blindness.” Traveling by car, bike, or foot; performing tasks; and recognizing people or objects becomes increasingly difficult in “evening light.”
Orientation and mobility (travel training) becomes necessary to navigate safely with the use of a cane and public transportation. Evening travel may be further aided by the use of an infrared night scope. Additionally, a well-lit room and additional use of task lighting (lamps or other lights) will be helpful for the individual to read, obtain details, and utilize vision to participate in activities.
RP typically advances to include progressive peripheral field loss.
An individual with loss of peripheral vision has some degree of “tunnel vision” making it difficult to gather comprehensive visual information in an environment; he or she will benefit from learning visual efficiency skills such as scanning an environment in an organized manner and possibly utilizing a reverse telescope to minimize the appearance of an image in order to see its entirety within the remaining field of vision. Additionally, the individual is likely to bump into side-lying and low-lying obstacles; he or she should utilize orientation and mobility skills, such as the use of a cane, to avoid obstacles.
As RP progresses, sharp visual acuity, central vision, and color vision may begin to deteriorate, possibly resulting in total blindness.
Loss of sharp visual acuity makes it difficult to recognize faces and facial expressions, access information from a classroom board or wall, view a speaker or performance, read print, and perform visual tasks of fine detail such as threading a needle. In order to best use remaining vision, your child can be taught to increase the contrast of the environment, increase the contrast of print by using a CCTV or screen-magnification software, and increase task lighting. Furthermore, your teen should sit in a preferred seat of a room for optimal viewing, whether near or far from the lecture or activity.
If your child loses central vision in addition to lost peripheral vision, he or she must be taught to complete tasks without the use of vision. Your child may be taught braille, screen-reading software to use the computer, and techniques for performing life skills and academic tasks from the teacher of students with visual impairments and orientation and mobility specialist. Better yet, your child should begin learning the aforementioned accommodations in preparation for complete loss of sight.
Please understand that throughout the progression of RP, it is common for bright sunlight and glare to cause significant discomfort and inability to see (this is known as a “white out”). Your child may benefit from specialized sunglasses (amber-tinted lenses), use of a brimmed hat while outdoors as well as shutting blinds while indoors if glare is present.
Your child’s teacher of students with visual impairments should perform a functional vision assessment to determine how your child uses his or her vision in everyday life and a learning media assessment to determine which senses your child primarily uses to get information from the environment. These assessments, along with an orientation and mobility assessment conducted by a mobility specialist, will give the team information needed to make specific recommendations for your child to best access learning material and his or her environment.
Resources for Families of Children with Usher Syndrome
- Retinitis Pigmentosa by the Foundation Fighting Blindness
- Facts About Retinitis Pigmentosa by the National Eye Institute
- 2015 Top 10 Retinal-Research Advances documented by the Foundation Fighting Blindness
- Retinitis Pigmentosa and Usher’s Syndrome: Understanding the Visual Problems of Retinitis Pigmentosa published in the Vision Enhancement Journal
- Retinitis Pigmentosa, a Prevent Blindness site
- Living with Hearing and Vision Loss Due to Usher Syndrome, a video of Mary Peck by the American Foundation for the Blind
- Facts About Usher Syndrome by the National Eye Institute
- Usher Syndrome Fact Sheet by The John and Marcia Carver Nonprofit Genetic Testing Laboratory