: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.
View Article and Find Full Text PDFPurpose: To retrospectively analyze long-term outcomes of pediatric pars planitis (PP).
Methods: PP was defined as vitreal inflammation with snowbank or snowball formation in the absence of a related disease. Eighty-five eyes of 44 patients were included in this study.