One common cause of this eye disease is mutations in the ‘ABCA4’ gene. These mutations lead to the production of a protein that disrupts the normal flow of food and waste material in and out of the retina’s photoreceptor cells. This process results in the accumulation of lipofuscin, a fatty substance, in and around the macula, impairing central vision. Over time, this can cause permanent damage to vision as the photoreceptor cells die off.
