Article
Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype.
Investigative ophthalmology & visual science - 1 Feb 2005
Schwartz Sharon B, Aleman Tomas S, Cideciyan Artur V, Windsor Elizabeth A M, Sumaroka Alexander, Roman Alejandro J, Rane Tej, Smilko Elaine E, Bennett Jean, Stone Edwin M, Kimberling William J, Liu Xue-Zhong, Jacobson Samuel G
Abstract excerpt
PURPOSE: To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused by mutation in the VLGR1 gene, and compare results with those from USH2A, a more common cause of Usher syndrome. METHODS: Three siblings with USH2C and 14 patients with USH2A were studied. Visual function was measured by kinetic perimetry, static chromatic perimetry, and...
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