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Potential therapy for progressive vision loss due to PCDH15 -associated Usher Syndrome developed in an orthologous Usher mouse

2021-06-08

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Usher syndrome type I (USH1) is characterized by congenital deafness, vestibular areflexia, and progressive retinal degeneration with age. The protein-truncating p.Arg245* founder variant of PCDH15 has an ~2% carrier frequency among Ashkenazi Jews, accounting for nearly 60% of their USH1 cases. Here, longitudinal ocular phenotyping in thirteen USH1F individuals harboring the p.Arg245* variant revealed progressive...

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Literature Corpus work: af5178b3-871d-5f74-b26a-1312fe073324
DOI: 10.1101/2021.06.08.447565

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Potential therapy for progressive vision loss due to <i>PCDH15</i> -associated Usher Syndrome developed in an orthologous Usher mouse

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