Usher Syndrome

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Often diagnosed in childhood or adolescence, Usher syndrome is an inherited disease causing combined hearing loss and vision loss from retinitis pigmentosa. The condition can also cause problems with balance.

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What is Usher Syndrome?

Usher syndrome is an inherited condition characterized by combined vision and hearing loss, and in some cases, balance dysfunction. Worldwide, it is the leading cause of combined deafness and blindness. 

The vision loss is due to retinitis pigmentosa (RP), a degenerative condition of the retina, and usually appears during childhood, adolescence or early adulthood.  The retina is a thin layer of tissue lining the back of the eye composed of light-sensing photoreceptor cells. These cells — also known as rods and cones — are responsible for converting light into electrical signals that the brain interprets as vision.

Hearing loss in Usher syndrome occurs because the gene mutations affecting the retina also affect the cochlea, a sound-transmitting structure of the inner ear.

Researchers estimate that as many as 25,000 people in the U.S. have Usher syndrome. 

 

Symptoms

There are three general types of Usher syndrome. People with Usher syndrome type 1 (USH1) are usually born with severe hearing loss and experience problems with balance. The first signs of RP — night blindness and loss of peripheral vision — usually appear in early adolescence.

In Usher syndrome type 2 (USH2), newborns have moderate to severe hearing impairment. Symptoms of RP typically start shortly after adolescence. Visual problems progress less rapidly than in Usher type 1, and hearing loss usually remains stable.

A rarer third type of Usher syndrome (USH3) was documented in 1995. Children with USH3 are usually born with good or only mild impairment of hearing. Their hearing and vision loss are progressive, starting around puberty. Balance may also be affected.

Usher syndrome is further subdivided into subtypes based on the mutated gene causing the disease. USH1B is caused by mutations in MYO7A, USH1C by mutations in USH1C, USH1D by mutations in CDH23, USH1F by mutations in PCDH15, and USH1G by mutations in SANS. Mutations in USH2A, ADGRV1, and WHRN cause USH2A, USH2C, and USH2D, respectively. USH3 is caused by mutations in CLRN1.

Of these, USH2A, MYO7A, and CDH23 are the most common.

Inheritance

Usher syndrome is passed from parents to their offspring through an autosomal recessive inheritance pattern. In autosomal recessive disease, both parents carry one copy of the mutated gene and one normal copy, but have no symptoms themselves. They are therefore referred to as unaffected carriers. Each of their children has a 25 percent chance of being affected by inheriting a mutated copy from each parent. If the child inherits one mutated copy from one parent, they will be an unaffected carrier.

Living with Usher syndrome

There are many services and accommodative and assistive resources available to people and families with Usher syndrome. Visit the Foundation’s Low Vision Resources page to learn about many of these resources. A low vision specialist can help recommend the resources that are right for you.

Genetic Testing

Genetic testing is available to help people definitively diagnose their condition and the risk of other family members or future offspring being affected. A genetic diagnosis can also help a person qualify for a clinical trial. Genetic counselors are excellent resources for discussing inheritability, family planning, genetic testing, and other related issues.

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Podcasts

  • May 8, 2025

    Eye on the Cure Podcast | Episode 85: Cindy Elden

    Cindy Elden talks about her journey with Usher syndrome type 3 (USH3), the decades-long work and persistence of her non-profit, and the clinical trial it launched for an USH3 small molecule therapy.

    Eye on the Cure

  • Sep 20, 2024

    Eye on the Cure Podcast | Episode 73: Dr. Zuhal Butuner

    Dr. Zuhal Butuner talks about her company’s two emerging RNA therapies for LCA10 and USH2A.

    Eye on the Cure

  • Sep 1, 2023

    Eye on the Cure Podcast | Episode 52: Brendan Creemer

    September 1, 2023. Brendan Creemer talks to host Ben Shaberman about how he is taking on the diagnosis of Usher syndrome 1F by dedicating his education and career to becoming a researcher for retinal disease treatments and cures.

    Eye on the Cure

  • Jun 16, 2023

    Eye on the Cure Podcast | Episode 48: Jami Kern, PhD

    June 16, 2023. Jami Kern, PhD, chief clinical officer at Nacuity Pharmaceuticals, talks with host Ben Shaberman about NACA, the company’s emerging gene-agnostic therapy for Usher syndrome and retinitis pigmentosa in a Phase 2 clinical trial in Australia. Their conversation includes a discussion about oxidative stress, which NACA is designed to mitigate, and timing for the efficacy readout from the Phase 2 study.

    Eye on the Cure

  • Feb 10, 2023

    Eye on the Cure Podcast | Episode 40: Rebecca Alexander

    February 10, 2023. Rebecca Alexander talks candidly with host Ben Shaberman about her journey with Usher syndrome. Reflecting on her own experiences, she discusses how people with vision loss and their loved ones can practice good emotional care and advocate for their needs.

    Eye on the Cure
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