Mutations in the gene encoding the protein RPE65 are associated with several forms of inherited retinal dystrophies, such as autosomal recessive retinitis pigmentosa (RP) [1] and autosomal recessive childhood-onset severe retinal dystrophy [2] which are characterized by profound visual deficiency, night blindness and reduced or non detectable electroretinogram (ERG). The gene discussed is RPE65; the disease is Retinal dystrophy.