An in vitro enzymatic assay to elucidate the VUS problem in RPE65, a target for retinal gene therapy Universiteit Gent
In 2017 and 2018, Luxturna received FDA and EMA approval as the first gene therapy product to treat patients with biallelic RPE65-mutations, causing severe inherited blindness. Eligibility for gene therapy requires a complete molecular diagnosis, which is often hampered by the identification of variants of uncertain significance (VUS), which have insufficient evidence concerning their pathogenicity. Given the role of RPE65 in the visual cycle ...