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This study elucidates the unique East Asian-specific genetic variants and clinical progression of USH2A-associated retinitis pigmentosa in Koreans, highlighting the potential for exon 13-targeted treatments.
Ultra-widefield OCT angiography identifies distinct peripheral retinal vascular phenotypes and a quantitative CNZ biomarker, facilitating an objective four-stage grading system for retinitis pigmentosa severity assessment and clinical trial
An exploratory trial of UGX-201, a novel optogenetic therapy, demonstrated safety and meaningful visual improvements in patients with advanced nonsyndromic retinitis pigmentosa, including restoration of light perception in those previously
This case series reviews clinical features, genetic variants, visual outcomes, and psychosocial impact in 28 patients with USH1C-associated Usher syndrome, highlighting slow retinal degeneration and significant social burden.