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ObjectiveTo explore a treatment paradigm for Leber hereditary optic neuropathy (LHON), we augmented mitochondrial antioxidant defenses to rescue cells with the G11778A mutation in mitochondrial DNA.MethodsCells homoplasmic for the G11778A mutation in mitochondrial DNA were infected with an...
Strabismus is misalignment of one eye in relation to the other, resulting in failure of the 2 eyes to simultaneously focus on the same image and loss of binocular vision. Strabismus affects 2% to 4% of the population and can result in amblyopia, which is often not discovered in time to initiate...
ObjectiveTo evaluate visual function in 2 boys and their maternal aunt affected with Danon disease due to a mutation in the X-linked lysosome-associated membrane protein-2 (LAMP2) gene.MethodsLinkage analysis using microsatellite markers from the X chromosome was done in family members from the...
Exceptional progress has been made during the past two decades in identifying genes causing inherited retinal diseases such as retinitis pigmentosa. An inescapable consequence is that the relationship between genes, mutations, and clinical findings has become very complex. Success in identifying...
Molecular genetics has contributed greatly to our understanding of inherited ocular disease. Prior to the development of recombinant DNA technology, basic and clinical scientists were limited to a description and classification of phenotypes based on morphology, biochemistry, and physiology....
ObjectiveTo investigate the association of endothelial nitric oxide synthase (NOS), inducible NOS, manganese superoxide dismutase (SOD), and extracellular SOD gene polymorphisms with susceptibility to Behçet disease (BD) in Japan.MethodsSeventy-eight consecutive Japanese patients with BD and 107...
ObjectiveTo correlate the ophthalmic findings of patients with pediatric vitreoretinopathies with mutations occurring in the Norrie disease gene (NDP).MethodsOne hundred nine subjects with diverse pediatric vitreoretinopathies and 54 control subjects were enrolled in the study. Diagnoses were...
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