Keeping Pace With Possibility

People with Usher Syndrome are building extraordinary lives — and they deserve supportive tools that keep pace with their evolving experiences and research focused on treatments that slow and stop vision loss. The Fairfield Fund is dedicated to both.

What is Usher Syndrome?

Usher Syndrome is a rare genetic disorder that causes a combination of hearing loss, vision loss, and balance dysfunction. 

Usher Syndrome is a clinically and genetically heterogenous recessive disorder, meaning both the cause of the disease and the symptoms of the disease vary. Usher Syndrome has three categories with symptoms that generally include:

  • Type 1: Profound congenital deafness, vestibular dysfunction (loss of balance), and early-onset vision loss in childhood

  • Type 2: Moderate-to-severe hearing loss at birth, with vision loss starting in teenage years

  • Type 3: Progressive hearing loss and vision loss that starts in late childhood or early adolescence with variable vestibular dysfunction

A Focus On Usher Syndrome 1B

Every Usher Syndrome journey is unique, but the need for treatment is universal. Because saving sight requires a precise, gene-specific approach, The Fairfield Fund pursues a laser focus on Usher 1B research, while maintaining a wide sense of support for the entire Usher community.

  • Children with Usher Syndrome 1B are born with severe to profound sensorineural hearing loss, significant vestibular (balance) dysfunction at birth, and experience progressive vision loss from retinitis pigmentosa. Vision loss typically starts with night blindness in early childhood, progresses to loss of peripheral vision in adolescence with many becoming legally blind in early adulthood.

  • Usher Syndrome 1B is a specific subtype of Type 1 caused by mutations in the MYO7A gene. To date, there are over 500 known disease causing mutations across numerous exons on the gene. Not all individuals with Type 1B have a confirmed genetic diagnosis due to costs and limitations in testing technology. With research focused on gene therapy, access to cutting edge genetic treatments is critical to helping more patients get diagnosed.

  • Retinitis pigmentosa is the specific vision loss associated with Usher Syndrome. It is a rare genetic eye disease that causes the gradual loss of photoreceptor cells in the retina, leading to progressive vision loss over time. In Usher Syndrome 1B, vision loss typically begins in early childhood with loss of night vision, and loss of peripheral (side and up/down) vision in early adolescence. It may eventually affect central vision as well. RP affects people differently, but it is lifelong and currently has no cure — though research and emerging therapies are advancing rapidly.

  • Sensorineural hearing loss (SNHL) is a type of permanent hearing loss caused by damage to the inner ear (cochlea) that impacts the ability to transmit sound to the brain. In Usher Syndrome 1B it is present at birth. Hearing loss exists on a spectrum of mild, moderate, severe and profound. Usher 1B patients typically have profound hearing loss from birth and families choose sign language and/or cochlear implants to communicate. Newborn hearing screening has been instrumental in identifying SNHL.

  • There are no proven treatments to slow, stop or restore vision loss associated with Usher Syndrome 1B.

    Cochlear implants provide support for hearing loss, but require significant therapy and support; sign language provides early access to language acquisition, but becomes more difficult to rely on as vision deteriorates.

    Tactile and protactile signed languages provide continued communication options for people who are DeafBlind, but are not commonly used within the general population.

1

Uncertainty

As a progressive disease, Usher Syndrome requires early intervention and constant monitoring. Patient needs change year over year - and those changes can come abruptly and unexpectedly. We fund the clinical therapies and mobility programs that protect vision and language from the very start. Time is everything.

The Challenges Are Real

2

Invisibility

Deafblindness is often an invisible journey, leaving families feeling overlooked. Because of the limited population of individuals living with deafblindness, providing support to families is not just important, it's life impacting. Finding organizations that are supporting these families, amplifying those efforts and helping them thrive is core to our mission.

3

Complexity

Because of the heterogeneous nature of the diseases and their symptoms, not every patient or family wants or needs the same support. Solutions that work for one person may not work for another, even in a single family. We provide foundational grants to fill critical gaps in advocacy and research, ensuring every family has the specific tools they need.