Early Detection of Stargardt Disease with OCT and AF – Page 23 of 30

Early Dx of SD may help development of early interventions and benefit patients the most.
Genetic confirmation, registration of patient into central registry, and publication of natural history data may help locate patients for trials and improve patient counseling.
Oral treatment such as ALK-001 from Alkeus Pharmaceuticals may prevent formation of toxic vit A dimers in the retina.⁷ Earliest drug activity may be monitored by images.
Patients with SD should not be on high levels of vit A (preformed vitamin A). Vegetable and fruit vitamin A are okay.
In SD, defective ABCA4 gene leads to improper shuttling of vit A out of the photoreceptors, and in formation of toxic vitamin A dimers.