Learn About Usher Syndrome Type 2A

What is the definition of Usher Syndrome Type 2A?
Usher syndrome type 2A is a genetic condition characterized by hearing loss from birth and progressive vision loss that usually begins in adolescence or adulthood. Vision loss is due to retinitis pigmentosa. Night vision loss begins first, followed by blind spots that develop in the side (peripheral) vision. Over time, these blind spots enlarge and merge to produce tunnel vision. In some cases, vision is further impaired by clouding of the front surface of the eye (cataracts). Hearing loss ranges from mild to severe and mainly affects high tones. The degree of hearing loss varies within and among families with this condition. Unlike other forms of Usher syndrome, people with type 2A do not have difficulties with balance caused by inner ear problems. Usher syndrome type 2A is caused by genetic changes the USH2A gene and is inherited in an autosomal recessive manner.
Save information for later
Sign Up
What are the alternative names for Usher Syndrome Type 2A?
  • Usher syndrome type 2A
  • US2
  • USH2
  • USH2A
Who are the top Usher Syndrome Type 2A Local Doctors?
Elite
Elite
 
 
 
 
Learn about our expert tiers
Learn more
Distinguished
What are the latest Usher Syndrome Type 2A Clinical Trials?
Rate of Progression in USH2A-related Retinal Degeneration
Summary: The overall goal of this project funded by the Foundation Fighting Blindness is to characterize the natural history of disease progression in patients with USH2A related retinal degeneration associated with congenital hearing loss (Usher syndrome type 2a) or non-syndromic retinitis pigmentosa (RP39).
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Usher Syndrome Type 2A?
A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.
Summary: A novel USH2A variant in a patient with hearing loss and prenatal diagnosis of a familial fetus: a case report.
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
Summary: Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations.
Tired of the same old research?
Check Latest Advances