In 1869, Theodor von Leber described a form of congenital blindness, marked by severely reduced vision before the age of one, nystag­mus, reduced pupillary responses, and tapeto­retinal degeneration [3]. Today, we know that Leber congenital amaurosis (LCA) encompasses a genetically diverse group of retinal diseases with varying forms and degrees of severity, all characterized by progressive loss of retinal func­tion. More than 20 genes have been linked to this type of retinal dystrophy. The subtype of LCA (LCA2) that can be treated with the first and only approved ocular gene therapy, Voretigene nepar­vovec, is associated with mutations in the RPE65 (retinal pigment epithelium-specific 65kDa) gene, first reported by Marlhens et al. in 1997 [4]. This condition is typically inherited in an autosomal recessive manner. Affected individu­als suffer from retinal degeneration, which typi­cally involves early night blindness and visual field loss with vision progressively worsening over time, leading to legal blindness. Significant visual impairment may be present at birth, occur slightly later—as seen in severe early childhood­onset retinal dystrophy (SECORD)—or develop in early adulthood, as with the subtype of retinitis pigmentosa (RP20), leading to progressive and severe vision loss. Mutations in the RPE65 gene are found in an estimated 6% of LCA patients and approximately 2% of autosomal recessive retinitis pigmentosa cases [5–10].