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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


Rebecca Alexander


New York, U.S.


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

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 |

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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