A 33‐year‐old male diagnosed with RPE65‐related Leber congenital amaurosis became the fourth patient in South Korea to receive subretinal voretigene neparvovec gene therapy after being found by exome sequencing (ES) to have a homozygous pathogenic variant due to paternal uniparental isodisomy (UPiD). Here, RPE65 is linked to Leber congenital amaurosis.