USHER SYNDROME COALITION
Disease Category: autosomal recessive
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
New York, U.S.
IN THE NEWS
USH3A mutations in patients with a prior diagnosis of Usher syndrome type I, Usher syndrome type II, and nonsyndromic recessive retinitis pigmentosa
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