Author(s): Shanees.E

Email(s): shanishanu10@gmail.com

DOI: 10.52711/2454-2660.2021.00116   

Address: Shanees.E
Associate professor, Manoj Jain Memorial College of Nursing Science & Research Center, Satna, Madhya Pradesh.
*Corresponding Author

Published In:   Volume - 9,      Issue - 4,     Year - 2021


ABSTRACT:
Usher syndrome is a condition that affects both hearing and vision; sometimes it also affects balance. The major symptoms of Usher syndrome are deafness or hearing loss and an eye disease called retinitis pigmentosa (RP). Most children with Usher syndrome are born with moderate to profound hearing loss, depending on the type. Less commonly, hearing loss from Usher syndrome appears during adolescence or later.1 Usher syndrome affects approximately 4 to 17 per 100,000 people,2,3 and accounts for about 50 percent of all hereditary deaf- blindness cases.4 . Usher syndrome is inherited as an autosomal recessive disorder. Usher syndrome is caused by mutations in specific genes. So far, Usher syndrome has been associated with mutations in at least ten genes. There are three types of Usher syndrome, type I, type II and type III 1. Diagnosis of Usher syndrome involves pertinent questions regarding the person’s medical history and testing of hearing, balance, and vision. Early diagnosis is important, as it improves treatment success. Genetic testing may help in diagnosing Usher syndrome. Presently, there is no cure for Usher syndrome. Treatment involves managing hearing, vision, and balance problems. Early diagnosis helps tailor educational programs that consider the severity of hearing and vision loss and a child’s age and ability.1 Usher Syndrome Awareness Day is observed in the third Saturday of September. Usher Syndrome Awareness Day seeks to bring attention and raise awareness of the most common genetic cause of combined deafness and blindness.5


Cite this article:
Shanees.E. Usher syndrome. International Journal of Nursing Education and Research. 2021; 9(4):495-7. doi: 10.52711/2454-2660.2021.00116

Cite(Electronic):
Shanees.E. Usher syndrome. International Journal of Nursing Education and Research. 2021; 9(4):495-7. doi: 10.52711/2454-2660.2021.00116   Available on: https://ijneronline.com/AbstractView.aspx?PID=2021-9-4-26


REFERENCES:
1.    Margaret Kenna, MD. National institute on deafness and other communication    disorders.    Health    information. https://www.nidcd.nih.gov/health/usher-syndrome
2.    Boughman, J.A., et al. (1983). Usher syndrome: definition and estimate of prevalence from two high-risk populations. Journal of Chronic Diseases, 36(8), 595–603.
3.    Kimberling, W., et al. (2010). Frequency of Usher syndrome in two pediatric populations: implications for genetic screening of deaf and hard of hearing children. Genetics in Medicine, 12(8), 512–516.
4.    Ben-Rebeh, I., et al. (2016). Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis. Molecular Vision, 22, 827–835.
5.    Usher syndrome coalition. Usher in a cure: help make a profound difference in the lives of thousands of children and adults. https://www.usher-syndrome.org/take-action/ush-awareness- day.html.
6.    Usher syndrome. https://en.wikipedia.org/wiki/Usher_syndrome
7.    National organization for rare disorders. Rare disease data base. Usher syndrome. https://rarediseases.org/rare-diseases/usher- syndrome/
8.    Usher Syndrome. Usher syndrome is a rare, inherited disorder that causes deafness and gradual vision loss in infants. It can also affect balance. https://my.clevelandclinic.org/health/diseases/15046- usher-syndrome
9.    Yan, D., Liu, X. Genetics and pathological mechanisms of Usher syndrome. J Hum Genet 55, 327–335 (2010). https://doi.org/10.1038/jhg.2010.29

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