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21 sie 2017 · Clinical Findings. Patients with STGD typically present in childhood or early adolescence, but some may present in later adulthood. Initial symptoms include bilateral central visual loss characterized by blurred vision, central scotomas, and/or dyschromatopsia.
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Ophthalmology. 2018;125(11):1803-1811. Monroe EJ, Chick JFB,...
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Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691).
26 lip 2024 · Stargardt disease (STGD) is the most common form of inherited juvenile macular dystrophy and is caused by sequence variants in the ABCA4 gene. Due to its genetic complexity and phenotypic variability, STGD poses significant therapeutic challenges.
10 paź 2024 · Stargardt disease was first described by German ophthalmologist Karl Stargardt in 1909 and remains the most common juvenile macular dystrophy, with an incidence of ~1/10,000 individuals worldwide.
6 mar 2023 · To explore fundus autofluorescence (FAF) imaging as an alternative to electroretinography as a noninvasive, quick, and readily interpretable method to predict disease progression in Stargardt disease (STGD).
8 sty 2024 · Stargardt disease (STGD1) is the most common cause of juvenile macular dystrophy. Mutations in the adenosine triphosphate binding cassette transporter alpha 4 subunit (ABCA4) gene cause this condition and are inherited in an autosomal recessive pattern.
Both patients had been seen by several ophthalmologists, retinal specialists or pediatric ophthalmologists and the consensus clinical diagnosis was STGD. Upon molecular testing we first ruled out ABCA4 mutations then identified two likely pathogenic mutations in the Bestrophin-1 ( BEST1 ) and Crumbs homolog 1 ( CRB1 ) genes, respectively.
