Our results confirm that MFSD8 is a rare cause of retinal degeneration as patients carrying biallelic variants in this gene represent only 5/1049 (0.47%) of the total number of cases sequenced by large NGS panels and 5/340 (1.5%) of the patients with macular dystrophy or cone/cone–rod dystrophy. The gene discussed is MFSD8; the disease is retinal degeneration.