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- W3096644126 endingPage "108330" @default.
- W3096644126 startingPage "108330" @default.
- W3096644126 abstract "Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod photoreceptor loss resulting in nyctalopia and a constricted visual field, followed by subsequent cone degeneration, leading to the loss of central vision and severe visual impairment. The USH2A gene raises many challenges for researchers and clinicians due to a broad spectrum of mutations, a large gene size hampering gene therapy development and limited knowledge on its pathogenicity. Patients with Usher type 2 may benefit from hearing aids or cochlear implants to correct their hearing defects, but there are currently no approved treatments available for the USH2A-retinopathy. Several treatment strategies, including antisense oligonucleotides and translational readthrough inducing drugs, have shown therapeutic promise in preclinical studies. Further understanding of the pathogenesis and natural history of USH2A-related disorders is required to develop innovative treatments and design clinical trials based on reliable outcome measures. The present review will discuss the current knowledge about USH2A, the emerging therapeutics and existing challenges." @default.
- W3096644126 created "2020-11-09" @default.
- W3096644126 creator A5001323539 @default.
- W3096644126 creator A5029532239 @default.
- W3096644126 creator A5087017472 @default.
- W3096644126 date "2020-12-01" @default.
- W3096644126 modified "2023-10-11" @default.
- W3096644126 title "USH2A-retinopathy: From genetics to therapeutics" @default.
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