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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 Alexander

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. 

IN THE NEWS

B. Jian Seyedahmadi, E.L. Berson, T.P. Dryja | Investigative Ophthalmology & Visual Science | May 2004 | Vol.45 | 4726 | iovs.arvojournals.org

Purpose: To establish the frequency of USH3A mutations among patients with recessive retinitis pigmentosa with or without self–reported hearing loss.

Methods: Fragments of the USH3A gene were amplified, some individually and others in small sets, from the leukocyte DNA of 72 unrelated patients with a prior diagnosis of Usher syndrome type I (USH1), 218 with Usher syndrome type II (USH2), and 166 with nonsyndromic autosomal recessive 

Waldo Herrera, Tomas S. Aleman, Artur V. Cideciyan, Alejandro J. Roman, Eyal Banin, Tamar Ben-Yosef, Leigh M. Gardner, Alexander Sumaroka, Elizabeth A. M. Windsor, Sharon B. Schwartz, Edwin M. Stone, Xue-Zhong Liu, William J. Kimberling, Samuel G. Jacobson | Investigative Ophthalmology & Visual Science | June 2008 | Vol.49 | 2651-2660 | doi.org/10.1167/iovs.07-1505

Purpose. To determine the retinal phenotype of Usher syndrome type III (USH3A) caused by clarin-1 (CLRN1) gene mutations in a non-Finnish population.

Method. Patients with USH3A (n = 13; age range, 24–69) representing 11 different families were studied and the results compared with those from patients with USH2A (n = 24; age range, 17–66). The patients were evaluated by ocular examination, kinetic and static perimetry, near-infrared autofluorescence, and optical coherence tomography (OCT).

Ebermann I1, Wilke R, Lauhoff T, Lübben D, Zrenner E, Bolz HJ | Molecular Vision | 30 Aug 2007 | 13 | 1539-1547 | PMID: 17893653 

Purpose. To identify the genetic defect in a German family with Usher syndrome (USH) and linkage to the USH3A locus.
Methods. DNA samples of five family members (both parents and the three patients) were genotyped with polymorphic microsatellite markers specific for eight USH genes. Three affected family members underwent detailed ocular and audiologic characterization.
Results. Symptoms in the patients were compatible 

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