In recent years, there is growing recognition that genes initially associated with severe LSDs, such as neuronal ceroid lipofuscinosis (CLN3 and MFSD8) and mucopolysaccharidosis type IIIC (HGSNAT), can also cause non-syndromic retinal dystrophy (5–7). The gene discussed is MFSD8; the disease is neuronal ceroid lipofuscinosis.