Stargardt Disease: An Overview
Stargardt disease is an autosomal recessive condition characterised by a mutation in the adenosine binding cassette transporter 4 (ABCA 4) gene, which is pivotal in the normal physiological metabolism of vitamin A. This loss of function of the ABCA 4 gene results in damage to the retinal cells from vitamin A dimers which are not metabolised normally and causes a build-up of lipofuscin within the retinal pigment epithelium (RPE) of the retina. Stargardt disease is one of the most common causes of macular dystrophy in young adults, the prevalence of Stargardt disease within the western world is approximated to be 1-10 per 100,000.