[Stargardt disease: genetics, molecular mechanisms, potential lifestyle interventions and pharmacotherapy].

Abstract

Stargardt disease (STGD1) is the most common inherited macular dystrophy. It is caused by biallelic variants in the ABCA4 gene and leads to impaired retinoid transport within photoreceptors. Disruption of retinoid clearance results in the accumulation of lipofuscin in the retinal pigment epithelium (RPE), which in turn induces oxidative stress, complement activation and progressive degeneration of the RPE and photoreceptors. Despite substantial advances in the understanding of the underlying pathophysiological mechanisms, no approved causal therapy is currently available; however, several promising pharmacological approaches are under preclinical and clinical investigation, targeting different metabolic steps within and around the visual cycle. This review article summarizes the genetic and pathophysiological basis of Stargardt disease and provides an overview of potential lifestyle interventions and emerging pharmacological treatment strategies. These advances could soon translate into disease-modifying therapies, highlighting the importance of early diagnosis and patient referral to specialized centers.