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Every Second Counts

“Every Second Counts” is a call to action and a vivid exploration into the lives of those affected by Usher syndrome, a rare genetic disorder causing the progressive loss of combined deafness and blindness. The campaign underscores the sense of urgency felt by individuals living with Usher syndrome, who are seeking to live full, meaningful lives, while actively striving to find effective treatments and ultimately, a cure.

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Featured

 Usher syndrome: 'Don't define me by a condition I happen to have'

People with Usher have both hearing and sight loss. But although the diagnosis can be devastating, many find new ways to cope.

Articles of Interest

Usher Syndrome Documentary Wins International Award

Silence with a Touch, a video documentary about Usher Syndrome produced by the National Technical Institute for the Deaf, a college of Rochester Institute of Technology, has won the Award of Excellence from The Communicator Awards, an international program that recognizes creative excellence in the communication field. Silence offers a snapshot of individuals of different ages who have Usher Syndrome, a genetic disease that combines retinitis pigmentosa, which causes progressive vision loss, with congenital hearing loss.

Usher syndrome: Recent advances in our understanding of genes and therapeutics

The quest for biological therapies that treat the source of USH pathology is ongoing. Gene therapy introduces a working copy of a gene to replace or supplement the mutated one. Gene therapy and gene editing tools are being explored in preclinical models and there is a need to progress these safely into clinical trials.

A Teenager’s Life With Usher Syndrome, a Rare Disease

Usher syndrome is the leading cause of deafblindness (the state of being both blind and deaf); however, the disorder is still generally rare. The syndrome is currently incurable and there are three different types. There are a total of 11 different genes that, if mutated, can cause the disorder. Usher syndrome type 2 is characterized by milder hearing impairment and delayed onset of vision decline. It is linked to mutations of the DFNB31, USH2A, and GPR98 genes.

Genes and Usher Syndrome

There are 3 types of Usher syndrome, and each type causes a different mix of hearing loss, balance issues, and vision problems. Researchers have found at least 9 genes that can cause the different types of Usher syndrome...

How I heard for the first time … and became an internet sensation

I was born deaf due to Usher syndrome, so hearing birdsong and running water at the age of 40 was beyond words

Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review

Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet available for the patient’s usage. This scoping review assessed the current scenario and analysed the challenges in implementing gene therapies for USH

Navigating Usher syndrome as a family

Natalie’s had hearing loss since she was about 3 years old, but it wasn’t until she was 29 that she was diagnosed with Usher syndrome. She tells us about this experience changed life for her and for her family.

Oliver Sacks and Usher's Syndrome

Dr. Sacks speaks to us of the deaf-blind's hunger for language. "The world which can't be directly perceived, which can't be seen and heard," must be conveyed through other means. Dr. Sacks has long taken us to other worlds through the power of his words. Now, thanks to PBS, we get sound and pictures too.

Reflections on Life with Usher Syndrome

The challenges never end. Last year, I had the opportunity to travel to Dubai on business, which, because of the long flight, I had to do without my current dog guide, Finnegan. As fearful as I was, I knew that if I didn’t go, I’d close the door on a great experience – my first visit to the Middle East. So with a cane, and relying on strangers, I successfully navigated the trip, from beginning to end.

Remarkable new insights into the pathology of Usher syndrome

Human Usher syndrome is the most common form of hereditary deaf-blindness. Researchers have now identified a novel pathomechanism leading to Usher syndrome. They have discovered that the Usher syndrome type 1G protein SANS plays a crucial role in regulating splicing process.

Rooting out the Cause of Blindness in Type 1 Usher Syndrome

Usher syndrome is a genetic disease that results in congenital deafness as well as progressive vision loss caused by retinitis pigmentosa. Type 1 Usher syndrome (40% of cases) is the most severe form of the disease, resulting in profound deafness and the early onset of vision loss.

The Secret Deafie: “My fingers are my eyes, my hands are my ears.” A poem about being deafblind

The Secret Deafie is a regular column about deaf experiences submitted anonymously by different contributors. In this instalment, a woman who is Deafblind has written a poem about her experiences…

Resources

Save Sight Now

Save Sight Now has partnered with the Foundation Fighting Blindness to help find and fund treatments for promising medical research that can save their vision. We have identified leading research teams working on therapeutic strategies that have the potential to slow, stop or reverse retina degeneration related to Usher Syndrome, but we need your help.

Usher 1F Collaborative

Usher 1F Collaborative is a 501c3 nonprofit foundation whose mission is to fund medical research to find an effective treatment to save or restore the vision of those with Usher syndrome type 1F.

Usher Syndrome Coalition

The Usher Syndrome Coalition is the only organization in the world working to find and support every individual and family living with USH, regardless of where they live, what type of USH they were born with, or their method of communication. Our mission is to raise awareness and accelerate research while providing information and support to individuals and families affected by Usher syndrome.

Usher Syndrome Society

The Usher Syndrome Society is a non-profit 501(c)3 whose mission is to raise public awareness and research funds for every type of Usher syndrome to find treatments and ultimately a cure for Usher syndrome (USH). Usher syndrome is the leading genetic cause of combined deafness and blindness.

Usher Syndrome

Usher syndrome (USH) is the most common genetic condition responsible for combined loss of hearing and vision. Balance disorders and bilateral vestibular areflexia are also observed in some cases. The syndrome was first described by Albrecht von Graefe in 1858, but later named by Charles Usher, who presented a large number of cases with hearing loss and retinopathy in 1914.

Fighting Blindness

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.

Gene Vision

Usher syndrome is a group of inherited disorders characterised by a combination of sensorineural hearing loss and retinitis pigmentosa (RP). It is categorised into three major clinical subtypes according to the severity and onset of hearing loss and whether vestibular dysfunction is present. Atypical presentations have also been described.

Hearing Health Foundation

Usher is technically considered a syndrome rather than a disease, condition, or disorder because it has more than one identifying feature or symptom. The two major symptoms of Usher syndrome are hearing loss and an eye disorder, retinitis pigmentosa (RP). In many individuals with Usher, balance is also severely impacted.

NORD

Usher syndrome is a rare genetic disorder primarily characterized by deafness due to an impaired ability of the inner ear and auditory nerves to transmit sensory (sound) input to the brain (sensorineual hearing loss) accompanied by retinitis pigmentosa, a disorder that affects the retina and causes progressive loss of vision. Researchers have identified three clinical types of Usher syndrome.