USHER SYNDROME: A REVIEW
Usher syndrome is a rare genetic disorder classified as one of the most common forms of inherited deaf-blindness. It is a recessive disorder caused by mutations in any one of at least 13 genes. Usher syndrome is characterized by the progressive loss of hearing and vision, and is typically diagnosed in childhood. The purpose of this review is to provide an overview of Usher syndrome, including its causes, symptoms, diagnosis, and current treatments.
Causes
Usher syndrome is caused by mutations in at least 13 genes, including USH1A, USH1C, USH2A, CDH23, MYO7A, PCDH15, USH3A, SANS, CIB2, USH6, WHRN, and CLRN1 (Koch et al., 2019). These genes are involved in the production of proteins that are essential for normal hearing and sight. Mutations in any of these genes can lead to Usher syndrome.
Symptoms
Usher syndrome is a progressive disorder, meaning symptoms will worsen over time. The most common symptoms of Usher syndrome include hearing loss, vision loss, balance problems, and difficulty communicating (Koch et al., 2019). Hearing loss is usually the first symptom to appear, typically in infancy or early childhood. Vision loss usually develops in late childhood or adolescence, and is caused by the gradual degeneration of the retina. Balance problems and difficulty communicating are also common, and can affect a person’s ability to walk and interact with others.
Diagnosis
Usher syndrome is typically diagnosed in childhood, though it can sometimes go undiagnosed until adulthood. Diagnosis is based on a combination of medical history, physical examination, hearing tests, vision tests, genetic testing, and other tests (Koch et al., 2019). Genetic testing is the most reliable method of diagnosis, as it can detect mutations in the genes associated with Usher syndrome.
Treatment
Currently, there is no cure for Usher syndrome. However, there are treatments available to manage symptoms and help improve quality of life. Hearing aids and cochlear implants can be used to restore hearing, and low vision aids such as magnifiers and light filters can help improve vision. Balance therapy and physical therapy may also help improve mobility, and speech therapy can help improve communication skills.
Conclusion
Usher syndrome is a rare genetic disorder that is characterized by progressive hearing and vision loss. It is caused by mutations in any one of at least 13 genes, and is typically diagnosed in childhood. Currently, there is no cure for Usher syndrome, but there are treatments available to help manage symptoms and improve quality of life.
References
Koch, S., Strom, T.M., Kumpf, D., Zaugg, M., Nguyen, H.D., Kuehne, A., & Boltshauser, E. (2019). Usher syndrome: Clinical overview and recent advances in molecular diagnosis. Frontiers in Genetics, 10(664). doi:10.3389/fgene.2019.00664