Novel mutations in the long isoform of the <i>USH2A</i> gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa

Abstract

At least one mutation was identified in 57-63% of USH2 cases and 19-23% of cases of non-syndromic recessive RP (calculated without and including probable/possible deleterious changes) thus supporting that USH2A is the most common known cause of RP in the USA.