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Article

Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome.

eLife - 9 Nov 2021

Sethna Saumil, Zein Wadih M, Riaz Sehar, Giese Arnaud Pj, Schultz Julie M, Duncan Todd, Hufnagel Robert B, Brewer Carmen C, Griffith Andrew J, Redmond T Michael, Riazuddin Saima, Friedman Thomas B, Ahmed Zubair M

Abstract excerpt

Usher syndrome type I (USH1) is characterized by deafness, vestibular areflexia, and progressive retinal degeneration. The protein-truncating p.Arg245* founder variant of PCDH15 (USH1F) has an ~2% carrier frequency amongst Ashkenazi Jews accounts for ~60% of their USH1 cases. Here, longitudinal phenotyping in 13 USH1F individuals revealed progressive retinal degeneration, leading to severe vision loss with...

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PMID: 34751129
DOI: 10.7554/eLife.67361
PMCID: PMC8577840

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