Gyrate Atrophy of the Choroid and Retina Diagnosed by Ornithine-δ-aminotransferase Gene Analysis: A Case Report
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چکیده
منابع مشابه
Gyrate Atrophy of the Choroid and Retina Diagnosed by Ornithine-δ-aminotransferase Gene Analysis: A Case Report
A pair of 19-year-old female identical twins was referred to our hospital with progressive visual loss. They exhibited bilateral chorioretinal atrophy involving the midperiphery on fundoscopy and fluorescein angiography. Bilateral visual field constriction was noted on dynamic Goldmann perimetry, and a markedly impaired response was observed on both photopic and scotopic electroretinograms. Cys...
متن کاملGyrate 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,...
متن کاملA deletion in the ornithine aminotransferase gene in gyrate atrophy.
Gyrate atrophy (GA) is an autosomal recessive chorioretinal degenerative disease of the eye caused by an inborn defect of the nuclear encoded mitochondrial enzyme ornithine aminotransferase (OAT). We have described previously a GA patient with a 5.0-kilobase pair truncated EcoRI OAT gene fragment and the absence of OAT mRNA on Northern blot analysis. Cloning and sequencing analysis of the trunc...
متن کاملExpression defect of ornithine aminotransferase gene in gyrate atrophy.
A generalized deficiency in the mitochondrial enzyme, ornithine aminotransferase (OAT: EC 2.6.1.13), is the hallmark of gyrate atrophy (GA), a hereditary degenerative disease of the choroid and retina of the eye that leads to blindness. A human OAT cDNA, previously constructed and characterized in our laboratory, and anti-human OAT antibody were used as probes to examine the OAT gene, mRNA and ...
متن کاملGyrate atrophy of the choroid and retina in a cat.
An adult male, domestic short-haired cat with generalized retinal atrophy was found to have a 60-fold increase in plasma ornithine and ornithinuria. Ornithine-8-aminotransferase activity was undetectable in its tissues and in its cultured skin fibroblasts. This feline condition is thus analogous to gyrate atrophy of the choroid and retina in humans.
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ژورنال
عنوان ژورنال: Korean Journal of Ophthalmology
سال: 2013
ISSN: 1011-8942,2092-9382
DOI: 10.3341/kjo.2013.27.5.388