A major characteristic of these STGD3-causing mutations is early-onset loss of central vision and macular degeneration akin to age-related macular degeneration (AMD), characterized by accumulation of high levels of lipofuscin in the retinal pigment epithelium (RPE), and macular degeneration (5, 6, 7, 8, 9, 10, 11). The gene discussed is ELOVL4; the disease is age-related macular degeneration.