Table of ContentsView AllTable of ContentsAge of Symptom OnsetGeneticsTypes and ProgressionTreatment GoalsMedical DevicesHelping Your Child
Table of ContentsView All
View All
Table of Contents
Age of Symptom Onset
Genetics
Types and Progression
Treatment Goals
Medical Devices
Helping Your Child
Children with Usher syndrome are born with this rare genetic condition. They contend with hearing issues and vision loss linked toretinitis pigmentosa. This is a condition in which the light-sensitiveretinaltissue at the back of the eye slowly becomes damaged on the sides. They may also have balance issues, which may be first detected in childhood or the teenage years.
Usher syndrome develops due to genes related to sight, hearing, and balance. Usher syndrome is also not the same for everyone. The three types vary in the genes responsible and result in different ages of symptom onset, types of symptoms, and severity.
In this article, you will learn when Usher syndrome is usually diagnosed, the role of genetics and inheritance, how symptoms progress, the goal of treatment, supportive devices and therapies, what’s involved in caring for children with this condition, and more.
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How Old Are Patients With Usher Syndrome?
While Usher syndrome is present at birth, symptoms may not become apparent until later. A person may be diagnosed in childhood, after hearing loss is identified, or in adolescence, when vision loss may begin.
The first signs of vision loss may be difficulty seeing at night or a loss ofside (peripheral) vision. With time, your child’s vision will likely continue to narrow, butcentral visionwill not be lost.
To determine if your child has Usher syndrome, a healthcare provider will test their vision, hearing, and balance.
In examining vision, the eye care professional will first check your child’s side vision. They will then use drops to widen (dilate) the pupil at the center of the eye and look at the retina for signs of retinitis pigmentosa.
Some eye tests they may need to undergo include:
Other tests that may be suggested for your child include the following:
Usher Syndrome, Genetics, and Inheritance
Usher syndrome is an inherited disorder, but not everyone affected has the same gene variants. Several genes are commonly associated with three different types of Usher syndrome. Genetic testing can be done to detect these genes:
Additional gene variants that can affect Usher syndrome are being discovered in ongoing research.
Usher syndrome is inherited in an autosomal recessive pattern.This means that in order to have Usher syndrome, your child must inherit a variant copy of the same gene from both parents. The genes are present on chromosomes other than X or Y, so Usher syndrome can occur equally in people of any sex.
If a person has only one copy of a variant gene, they are considered a carrier. A carrier can pass along the gene for the condition to their children but will not have symptoms themselves. As a result, unless Usher syndrome is known to be present in a person’s family, they may not suspect they carry the genes for it.
What Are Genes, DNA, and Chromosomes?
Progressive Symptoms in Each Type of Usher Syndrome
Your child may have a different combination of symptoms depending on which genes are responsible. Here’s what to know about each type and the symptoms it may cause:
Type 1
Type 2
Children with this form of Usher syndrome have moderate to severe hearing loss. They are usually able to wear hearing aids, allowing for spoken communication. Balance is not unaffected. The beginning of retinitis pigmentosa usually first becomes apparent during late adolescence. By midlife, those with type 2 contend with severe vision loss.
Retinitis Pigmentos
Type 3
By the time they’re leaving their teens or are in their early 20s, they may begin to detect blind spots in their vision. By midlife, they may belegally blindwith just their central vision remaining. Their balance tends to remain normal or close to it during childhood but may cause issues later in life.
Goals of Usher Syndrome Treatment
Unfortunately, there is no magic bullet to cure Usher syndrome. Still, maximizing vision and hearing for those with this condition is possible.
For adults with some forms of Usher syndrome, high doses of the palmitate form of vitamin A may slow the progression of the condition, but there may also be significant side effects.Anyone who is pregnant or planning to become pregnant should avoid high doses of vitamin A, which can affect the developing fetus and result in conditions present at birth.
Also, teaching those with Usher syndrome how to use Braille, a form of touch reading and writing, may be helpful.
Medical Devices: Getting Usher Syndrome Care
While there is no way to restore hearing or vision that is lost to Usher syndrome, there are some devices that can help.
It’s possible to provide better hearing in some cases with the use of assistive listening devices to increase volume, hearing aids, or acochlear implant(an implanted electronic device that can receive sound and send signals to the auditory nerve) to help with communication. Some may also wish to learn sign language.
For those with vision loss due to related retinitis pigmentosa, alow-vision specialistcan recommend assistive and adaptive devices and lifestyle modifications. For example, a lighted magnifying device can make it possible to read and write. A flashlight or penlight can help illuminate a keyhole in low light.
Research AdvancementsActive areas of research include clinical trials forgene therapyfor a common gene mutation that results in Usher syndrome and developing new drugs that may slow the degeneration of the retina.
Research Advancements
Active areas of research include clinical trials forgene therapyfor a common gene mutation that results in Usher syndrome and developing new drugs that may slow the degeneration of the retina.
For Parents: Raising a Child With Usher Syndrome
If you have a child with Usher syndrome, you must first learn to navigate the condition for yourself. Here are some things to keep in mind as you work to help your child:
Accommodations
Summary
Usher syndrome is a rare genetic condition that can affect vision, hearing, and balance. Three different types are related to several genes that can affect children or begin later in life. Usher syndrome is progressive, with symptoms slowly worsening with age.
8 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Eye Institute.Usher syndrome.National Eye Institute.Genes and usher syndrome.Foundation Fighting Blindness.Usher syndrome.National Institute on Deafness and Other Communication Disorders.Usher syndrome.Mathur P, Yang J.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochim Biophys Acta. 2015;1852(3):406-420. doi:10.1016/j.bbadis.2014.11.020American Academy of Ophthalmology.How to manage vision loss in retinitis pigmentosa.Usher Kids UK.Guidance for parents and families on supporting children and young people with a diagnosis of Usher syndrome.Nemours Foundation/KidsHealth.org.Individualized education programs (IEPs).
8 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.National Eye Institute.Usher syndrome.National Eye Institute.Genes and usher syndrome.Foundation Fighting Blindness.Usher syndrome.National Institute on Deafness and Other Communication Disorders.Usher syndrome.Mathur P, Yang J.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochim Biophys Acta. 2015;1852(3):406-420. doi:10.1016/j.bbadis.2014.11.020American Academy of Ophthalmology.How to manage vision loss in retinitis pigmentosa.Usher Kids UK.Guidance for parents and families on supporting children and young people with a diagnosis of Usher syndrome.Nemours Foundation/KidsHealth.org.Individualized education programs (IEPs).
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
National Eye Institute.Usher syndrome.National Eye Institute.Genes and usher syndrome.Foundation Fighting Blindness.Usher syndrome.National Institute on Deafness and Other Communication Disorders.Usher syndrome.Mathur P, Yang J.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochim Biophys Acta. 2015;1852(3):406-420. doi:10.1016/j.bbadis.2014.11.020American Academy of Ophthalmology.How to manage vision loss in retinitis pigmentosa.Usher Kids UK.Guidance for parents and families on supporting children and young people with a diagnosis of Usher syndrome.Nemours Foundation/KidsHealth.org.Individualized education programs (IEPs).
National Eye Institute.Usher syndrome.
National Eye Institute.Genes and usher syndrome.
Foundation Fighting Blindness.Usher syndrome.
National Institute on Deafness and Other Communication Disorders.Usher syndrome.
Mathur P, Yang J.Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochim Biophys Acta. 2015;1852(3):406-420. doi:10.1016/j.bbadis.2014.11.020
American Academy of Ophthalmology.How to manage vision loss in retinitis pigmentosa.
Usher Kids UK.Guidance for parents and families on supporting children and young people with a diagnosis of Usher syndrome.
Nemours Foundation/KidsHealth.org.Individualized education programs (IEPs).
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