Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

ABSTRACT: 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 analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function. There was a tendency for Usher syndrome patients to have a higher dist

SUBMITTER: Sengillo JD 

PROVIDER: S-EPMC5593892 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature