Search results
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).
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.
21 sie 2017 · Stargardt Disease (STGD) is most commonly caused by mutations in the ABCA4 gene located on chromosome 1 (OMIM 601691) and is inherited in an autosomal recessive manner.
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.
8 sty 2024 · Stargardt disease type 1 (STGD1) is the most common cause of juvenile macular dystrophy. [1] German ophthalmologist Karl Stargardt first described the condition in 1909 in seven patients of two families who presented with macular dystrophy surrounded by yellow-white pisciform flecks.
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).
Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4.