Stargardt macular dystrophy

Stargardt macular dystrophy (STGD1) is the most prevalent inherited macular dystrophy, characterized by progressive central vision loss and decline of visual acuity. It is caused by homozygous or compound heterozygous variants in the ABCA4 gene, with a large genetic heterogeneity that poses challenges in establishing genotype-phenotype correlations. Null variants are generally associated with earlier and more severe disease onset, whereas missense and deep intronic variants have been identified as contributors to late-onset disease with milder phenotypes. Pathophysiologic mechanisms involve impaired transport of products of the visual cycle, leading to lipofuscin accumulation, retinal pigment epithelium, and photoreceptor dysfunction and atrophy. Clinical manifestations include bilateral central vision impairment, macular atrophy, and characteristic retinal flecks consisting of lipofuscin deposits. Further assessments, such as optical coherence tomography, fundus autofluorescence, electroretinography, and microperimetry, are crucial in diagnosing and monitoring the disease. Current management strategies focus on low-vision aids, photoprotection, and lifestyle modifications, avoiding smoking and vitamin A supplementation, with ongoing research exploring potential pharmacologic, gene therapy, and stem cell therapy. Despite the absence of proven treatments, emerging therapeutic avenues offer hope for preserving and restoring vision in patients with STGD1.