Retrospective cohort study of 182 Korean patients with biallelic pathogenic USH2A variants, evaluating the molecular genetic spectrum and age-related clinical features (BCVA, Goldmann visual field, EZ band length) of USH2A-associated retinitis pigmentosa, stratified by Usher syndrome vs. non-syndromic RP and by truncating variant burden.
The most common allele was c.2802T>G (p.Cys934Trp) at 23.6% of 364 alleles; 45.1% of patients carried at least one copy. European hotspots c.2299delG and c.2276G>T were absent. Usher syndrome (30.8%) and higher truncating variant burden both correlated with worse visual acuity, visual field, and ellipsoid zone band length.
Retrospective single-population design limits generalizability to other East Asian or non-Asian groups. Cross-sectional age-modeling with splines is an imperfect substitute for longitudinal follow-up. Referral-based cohort may over-represent more severely affected patients.
Korean RP patients should be screened for c.2802T>G rather than European USH2A hotspots. Because ~45% of this cohort carry at least one exon 13 c.2802T>G allele, East Asian patients are strong candidates for emerging exon 13-targeted therapies.
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