USH3A
Disease Category: autosomal recessive
Patient Population:
Active Clinical Trials: One, completed
Treatment Options: Cochlear Implants (hearing)
Strategies to Preserve Eye Health: lutein
Institution(s) Conducting Research: University of San Francisco, Centre Hospitalier Régional Universitaire de Lille, Doheny Eye Institute, Institut de la Vision, Institut de l'Audition
A FACE OF RP
Rebecca
New York, U.S.
BRIEF DESCRIPTION
Usher syndrome, a group of genetic disorders that cause progressive hearing loss and vision loss. USH3A retinitis pigmentosa is also characterized by progressive eye disease (night blindness and loss of peripheral vision) and progressive hearing loss and variable vestibular dysfunction. USH3A retinitis pigmentosa is caused by a mutation in the CLRN1 gene on chromosome 3q25. The gene encodes clarin-1, a protein that helps maintain retinal photoreceptors.
Usher syndrome is the most common cause of inherited visual loss, excluding age-related macular degeneration and glaucoma.
At present, there's no cure for Usher syndrome, but early treatment can help people make the most of their hearing and vision. Medications can help treat complications of the disease.
This is for informational purposes only. For medical advice or diagnosis, consult a professional.
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