The importance of ABCA4 in photoreceptor physiology is evident from the finding that over 2,300 mutations in the ABCA4 gene have been implicated in Stargardt disease (STGD1) and related cone-rod dystrophy (https://databases.lovd.nl/shared/variants/ABCA4/). The gene discussed is ABCA4; the disease is cone-rod dystrophy.