June 17, 2026 · American journal of ophthalmology · DOI: 10.1016/j.ajo.2026.06.016

SEARCHING FOR NEW GENES THAT CAUSE USHER SYNDROME

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The authors aimed to identify novel candidate genes associated with Usher syndrome (USH) by analyzing phenotyping data from 9,139 knockout mouse lines. They discovered 18 genes linked to both hearing abnormalities and retinopathy, suggesting potential roles in the pathology of USH. The findings highlight the need for further investigation into these genes to understand their contributions to retinal degeneration and hearing loss in humans.

Ala Moshiri, Niusha Kasiri, Michael Shea, Layla Ali, Benjamin Yang, Andy Shao, Dave Clary, Ann M Flenniken, Mohammad Eskandarian, Oana V Amarie, Lore Becker, Riccardo Sangermano, Emily M Place, Kinga M Bujakowska, Rachel M Huckfeldt, Zorana Berberovic, Raphaël Bour, Fabrice Riet, Steve D Brown, Abigail D'Souza, Helmut Fuchs, Valerie Gailus-Durner, Alain Guimond, Yann Hérault, Martin Hrabe de Angelis, Aline Lux, Christophe Mittelhauser, Lauryl M J Nutter, Marcela Palkova, Jiri Lindovsky, Benoit Petit-Demouliere, Jan Prochazka, Vivian Bradaschia, Lois Kelsey, Colin McKerlie, Miles Joseph Raishbrook, Radislav Sedlacek, International Mouse Phenotyping Consortium, Louise Lanoue, Kc Kent Lloyd, Michel J Roux, Olivia Bermingham-McDonogh

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