Through this study, we solved three families, which either confirmed or altered diagnoses, and found two potentially novel associations: variants in the low-density lipoprotein receptor related protein 1 (LRP1) gene in patients with macular drusen formation and in the ubiquitin conjugating enzyme E2 (UBE2U) gene in a pedigree of retinal dystrophy with associated systemic defects. The gene discussed is LRP1; the disease is Retinal dystrophy.