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Dr. Straka has extensive training in the areas of cosmetic facial surgery including upper and lower blepharoplasty (eyelid lift), endoscopic brow/forehead lift, facelift, and laser resurfacing techniques to reduce facial wrinkles.
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.
Abstract. 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).
On the basis of the available literature in the PubMed database, we describe the pathogenesis, diagnosis and therapeutic trials in Stargardt disease (STGD). STGD is the most commonly inherited cause of visual loss in childhood and adulthood.
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.
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.
