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

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 h...

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Pubblicato in:Sci Rep
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2017
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593892/
https://ncbi.nlm.nih.gov/pubmed/28894305
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-11679-y
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