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Stargardt’s Disease: Molecular Pathogenesis and Current Therapeutic Landscape

21 Jul 2025

Abstract excerpt

Stargardt’s disease (STGD1) is an autosomal recessive juvenile macular degeneration caused by mutations in the ABCA4 gene, impairing clearance of toxic retinoid byproducts in the retinal pigment epithelium (RPE). This leads to lipofuscin accumulation, oxidative stress, photoreceptor degeneration, and central vision loss. Over 1200 pathogenic/likely pathogenic ABCA4 variants highlight the genetic heterogeneity of...

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PMID: 40725253
DOI: 10.3390/ijms26147006

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