A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration.
نویسندگان
چکیده
منابع مشابه
Gyrate Atrophy of the Choroid and Retina: A Case Report
Introduction Gyrate atrophy of the choroid and retina is a metabolic disorder, which is inherited in an autosomal recessive pattern. Although gyrate atrophy is rare, it is concerning as it results in blindness. It is characterized by hyperornithinemia, retinal atrophy, leads to progressive myopia and tunnel vision,...
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Deficiency of ornithine-delta-aminotransferase (OAT) in humans results in gyrate atrophy of the choroid and retina (GA), an autosomal recessive disorder characterized by ornithine accumulation and a progressive chorioretinal degeneration of unknown pathogenesis. To determine whether chronic, systemic reduction of ornithine can prevent this form of retinal degeneration, we used an arginine-restr...
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The function of the neural retina and the pigment epithelium in 10 patients with gyrate atrophy was examined by the conventional alternating current electroretinogram and by direct current electroretinography to study the c-wave. The a- and b-wave responses were subnormal in all patients and the ERG was undetectable in patients with an advanced stage of the disease. The c-wave was recordable by...
متن کاملRetinal detachment and gyrate atrophy of the choroid and retina: case report.
To report a case of gyrate atrophy of the choroid and retina associated with retinal detachment. Hyperornithinemia confirmed the diagnosis of gyrate atrophy. Pars plana vitrectomy with silicone oil infusion was performed with good anatomical results, despite the persistence of low visual acuity. Retinal detachment is a rare complication of gyrate atrophy and can be managed with pars plana vitre...
متن کاملComplement gene expression and regulation in mouse retina and retinal pigment epithelium/choroid
PURPOSE To understand the expression of genes involved in different complement pathways in the retina and retinal pigment epithelium (RPE)/choroid under physiologic conditions and how their expression is regulated by inflammatory cytokines. METHODS The expression of complement components of the classical pathway (CP), mannose-binding lectin (MBL) pathway, alternative pathway (AP), and termina...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1996
ISSN: 0021-9738
DOI: 10.1172/jci118730