In 1 individual, homozygosity for ABCA4 c.5882G>A; p.(Gly1961Glu) as well as ABCC6 (NM_001171.6) c.708_709dup9; p.(Trp237SerfsTer22) variants resulted in a macular dystrophy phenotype as well as pseudoxanthoma elasticum, with both ocular and dermatological features noted. The gene discussed is ABCA4; the disease is Macular dystrophy.