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Uncovering Novel Genetic Contributors to Usher Syndrome: Insights from Comprehensive Mouse Knockout Models

A large-scale phenotypic screen of 9,139 knockout mouse lines identified 18 candidate genes linked to retinal and hearing abnormalities, offering promising new targets for understanding and diagnosing Usher syndrome.

Oct 26, 2026
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EYS-Associated Retinal Degeneration in South Korea: Insights into Genetic Variability, Clinical Features, and Disease Progression

This comprehensive South Korean study characterizes the genetic landscape, clinical phenotype, and natural history of EYS-associated retinal degeneration, establishing progression benchmarks for future gene therapy trials.

Sep 28, 2026
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Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1

A case series delineating a novel EFEMP1 variant, p.Arg140Trp, associated with late-onset peripheral retinal degeneration distinct from classic DHRD/ML, highlighting rod dysfunction precedes structural changes.

Sep 13, 2026

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