Our Mission

Usher syndrome type1 is a genetic disorder that robs children of their hearing and balance from birth and rapidly deteriorates their vision. Usher syndrome is the most common form of deaf blindness. Imagine navigating the world without sound, balance and vision. We’re focused on finding a treatment or cure for Retinitis Pigmentosa - the cause of blindness related to Usher syndrome.

Save Sight Now partnered with the world’s leading inherited retinal disease organization - Foundation Fighting Blindness - to identify and fund promising medical research that can save the vision of thousands of children and adults who are rapidly losing their sight.

Our goal is to ensure those living with Usher syndrome type 1B – an underserved community – do not lose another critical sense for experiencing and navigating the world around them. We know this is achievable because we’ve already seen successful treatments approved by the FDA for other forms of retinal diseases; and we’ve made it our goal to ensure researchers are prioritizing treatments for those that have already lost so much by funding their efforts.

While the majority of the research we fund has the potential to benefit all Ush types, our research targets are prioritizing treatments that will benefit individuals living with Usher syndrome type 1B.

What is Usher Syndrome Type1B

Usher Syndrome is a rare genetic condition characterized by partial or total hearing loss and vision loss that worsens over time.  There are 3 categories of Usher Syndrome - Usher 1, 2 and 3 - defined by the severity of hearing loss and speed of vision loss - Type 1 being the most severe. 

Individuals with Usher Syndrome Type 1 are born with profound hearing loss and progressive vision loss caused by retinitis pigmentosa which becomes apparent in childhood, starting with a loss of night vision, leading to progressively worsening tunnel vision. Usher 1 also causes abnormalities of the vestibular system, which helps maintain the body's balance and orientation in space. 

Usher Syndrome Type 1B is caused by mutations or variants in the MYO7A gene. The MYO7A gene provides instructions for making a protein called myosin VIIA. These proteins help transport molecules within cells. Myosin VIIA is made in the inner ear and in the retina, which is the light-sensitive tissue at the back of the eye. In the inner ear, myosin VIIA plays a role in the development and maintenance of hairlike projections called stereocilia. In the retina, myosin VIIA is found primarily in a thin layer of cells called the retinal pigment epithelium (RPE). Myosin VIIA plays a role in the development and maintenance of this tissue, which supports and nourishes the retina.

For more information please visit: NIDCD