Our Story
From diagnosis to determination—this is why VisionBound exists.
Family Journey
In 2021 we received the devastating diagnosis that a rare, degenerative, genetic disease affects one of our children. This condition is the leading cause of deaf-blindness, and thus affects both vision and hearing. There is currently no treatment or cure.
A medical diagnosis is a journey of grief, and we all went through the classic stages. From denial and anger, through depression, bargaining and finally acceptance. We’ve battled with terror of the unknown and a diagnosis we couldn’t protect our child from. What kept us going was, research, research, and more research. We’ve spent countless sleepless nights pouring over articles, publications, and lectures. We’ve attended many scientific conferences in the US as well as abroad. We’ve met a number of brilliant scientists, clinicians, and wonderful warmhearted people. Many of them became our friends and are unwavering supporters on this incredible journey we never imagined we would embark on.
What is Usher Syndrome Type 2A?
Usher Syndrome Type 2A is a rare genetic disorder caused by mutations in the USH2A gene, and it primarily affects hearing and vision. Children with this condition are typically born with moderate to severe hearing loss, especially in the high-frequency range.
The vision loss component is due to retinitis pigmentosa, a degenerative eye disease that usually starts in the teen years and progresses over time. It starts with night blindness, followed by the gradual development of peripheral blind spots that eventually merge into tunnel vision. Retinitis Pigmentosa leads to severe vision loss, and in some cases, it may progress to total blindness, though the timeline and severity vary widely between individuals.
While Usher Syndrome doesn’t shorten life expectancy, it does change how a child experiences the world—and how they learn, communicate, and connect.
RNA Therapy Research
We are developing a new RNA therapy for Usher Syndrome Type 2A that aims to slow or stop vision loss. Using a technique called exon skipping — like skipping over a word in a sentence so the rest makes sense — our approach helps the body produce a shorter but functional usherin protein. This has the potential to protect retinal cells and preserve sight for people with Usher Syndrome.
Our Mission
Now we are on a mission to develop a therapy to stop the progression of this relentless and unforgiving disease. We are laying the groundwork to develop RNA therapy in collaboration with scientists and clinicians from around the world.
We are racing with time and are determined to defy the odds!