Clinical and genetic characteristics of RPE65-associated inherited retinal degeneration in Koreans

Biallelic *RPE65* variants causing retinal degeneration eligible for gene therapy (voretigene neparvovec)

A Korean multicenter retrospective study described 11 patients from 9 families with biallelic pathogenic/likely pathogenic RPE65 variants. All reported symptom onset before age 3 but presented at an advanced stage (median age 29 years), with median visual acuity of 0.1 and extinguished electroretinography in all cases. Fourteen distinct variants were identified, none novel, with the frameshift p.Asn356fs relatively frequent (27.8% of alleles). The authors emphasize that most Korean patients present at a stage where the gene-therapy therapeutic window may already have passed, justifying early genetic diagnosis.

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The clinical stake here is directly therapeutic: RPE65 is one of the few retinopathies with an approved gene therapy whose efficacy depends on sufficient residual retinal tissue. The message — diagnose early to avoid missing the window — is important even though the study is descriptive and small. The Korean allelic profile is useful for laboratories but without major novelty.