A deletion in the ornithine aminotransferase gene in gyrate atrophy.
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A 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 ...
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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 کاملColour vision in gyrate atrophy
A follow-up study of colour vision in two patients with gyrate atrophy was performed. Gyrate atrophy was diagnosed in the first patient at the age of 17 years. Her colour vision was first tested at the age of 25 years; at the follow-up examination 7 years later, she correctly interpreted the Standard Pseudoisochromatic Plates part 2, however, with one mistake due to lens opacity. In the Farnswo...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 1992
ISSN: 0021-9258
DOI: 10.1016/s0021-9258(18)42366-6