– By Dr. Chithra S, Shree Polyclinic & Lab
Usher Syndrome Awareness Day is a global initiative dedicated to spreading knowledge about Usher Syndrome, one of the rarest inherited conditions affecting both hearing and vision. It is observed every year on the third Saturday of September. In 2025, it falls on 20th September.
Understanding Usher Syndrome
Usher Syndrome is a genetic disorder that causes varying degrees of hearing loss from birth or early childhood, along with retinitis pigmentosa – a condition that leads to night blindness and progressive loss of vision. Since symptoms progress gradually, it often remains undetected for years. Even with a diagnosis of retinitis pigmentosa, the genetic link to hearing loss is sometimes overlooked.
Though limited data exists for India, global estimates suggest that Usher Syndrome affects about 1 in 17,000 people. Extrapolating from U.S. data, it is assumed that nearly 78,000 individuals in India may be living with this condition.
Origins of Usher Syndrome Awareness Day
The Usher Syndrome Coalition (USC), founded in 2008, has been at the forefront of uniting families, researchers, and healthcare professionals to raise awareness. In 2015, USC designated the third Saturday of September as Usher Syndrome Awareness Day. This date was chosen to align with the autumnal equinox in the Northern Hemisphere—a symbolic reminder of the transition to longer nights, reflecting the challenges of vision loss in Usher Syndrome.
Treatment and Future Perspectives
Currently, there is no definitive cure for Usher Syndrome. However, research is progressing rapidly in the fields of:
- Gene therapy – including promising results using CRISPR-Cas9 gene editing technology.
- Cell and drug-based therapies – aiming to slow or halt disease progression.
- Assistive and rehabilitative care – hearing aids, cochlear implants, and balance training play a critical role in improving quality of life.
Early diagnosis is essential to implement educational and rehabilitation programs that can support children and families in adapting to hearing and vision challenges.
Vitamin A – A Word of Caution
Studies suggest that Vitamin A supplementation may help slow the progression of retinitis pigmentosa in certain patients. However, it must be approached with strict medical guidance, as benefits depend on the subtype of Usher Syndrome.
Precautions include:
- Only use Vitamin A palmitate under medical supervision.
- Avoid high-dose Vitamin A supplementation, especially for pregnant women, as it increases the risk of birth defects.
- Discontinue high-dose Vitamin A at least six months before conception.
Moving Forward
At Shree Polyclinic & Lab, we emphasize the importance of awareness, early detection, and ongoing research to improve the lives of individuals with Usher Syndrome. On this Usher Syndrome Awareness Day 2025, let us stand together to support patients, families, and the scientific community striving toward better treatments and, hopefully, a cure in the future.
Here are some useful reference links
Scientific / Medical References
- Generation and Genetic Correction of USH2A c.2299delG Mutation in Patient-Derived Induced Pluripotent Stem Cells (Liu et al., 2021) – demonstrates CRISPR/Cas9 correction of the c.2299delG mutation in USH2A in vitro. PubMed
- USH2A Gene-Specific Research / Current Research & Trials from the Usher Syndrome Coalition – information about USH2A mutation correction via genome editing and other ongoing research. usher-syndrome.org
- CRISPR/Cas9-mediated Correction of the Most Recurrent USH2A Mutations (Sanjurjo-Soriano et al.) – focus on correction of c.2276G>T and c.2299delG mutations. IOVS+1
Organizational / Background References
- Usher Syndrome Coalition — organization focused on patient/family support, awareness, and research. usher-syndrome.org
- Usher Syndrome Coalition entry in NIDCD (U.S. National Institute on Deafness and Other Communication Disorders) confirming its mission and role. NIDCD