Article
Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.
Scientific reports - 11 Sept 2017
Sengillo Jesse D, Cabral Thiago, Schuerch Kaspar, Duong Jimmy, Lee Winston, Boudreault Katherine, Xu Yu, Justus Sally, Sparrow Janet R, Mahajan Vinit B, Tsang Stephen H
Abstract excerpt
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective...
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