Additionally, with an approved retinal gene therapy for biallelic RPE65 mutation-associated retinal dystrophy, Luxturna® (voretigene neparvovec-rzyl) [21, 22], and several ocular gene therapy clinical studies in progress [23–25], confirming a molecular diagnosis through genetic testing may help individuals access the latest treatment options or qualify for study participation [2, 7]. The gene discussed is RPE65; the disease is Retinal dystrophy.