retinal degeneration

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

By MedXY 10/26/2026

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.

news Ophthalmology

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

By MedXY 09/28/2026

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.

news Ophthalmology

Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1

By MedXY 09/13/2026

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.