Article
Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.
Investigative ophthalmology & visual science - 1 Jun 2008
Herrera Waldo, Aleman Tomas S, Cideciyan Artur V, Roman Alejandro J, Banin Eyal, Ben-Yosef Tamar, Gardner Leigh M, Sumaroka Alexander, Windsor Elizabeth A M, Schwartz Sharon B, Stone Edwin M, Liu Xue-Zhong, Kimberling William J, Jacobson Samuel G
Abstract excerpt
PURPOSE: To determine the retinal phenotype of Usher syndrome type III (USH3A) caused by clarin-1 (CLRN1) gene mutations in a non-Finnish population. METHODS: 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...
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