نتایج جستجو برای: gyrate atrophy
تعداد نتایج: 36545 فیلتر نتایج به سال:
Cultured fibroblasts from a patient with gyrate atrophy of the retina do not convert L-ornithine, uniformly labeled with carbon-14, to proline. This metabolic block is caused by deficient L-ornithine:2-oxoacid aminotransferase activity in the patient. Her heterozygote father has intermediate activity of this enzyme.
The relative importance of genetic degenerative eye lesions as causes of blindness or impaired vision has increased because of the lack of effective treatment for such conditions as compared with other diseases. Related to the large and not very well-defined group of degenerative eye lesions termed tapeto-retinal degenerations, is a choroidal form known as gyrate atrophy of the choroid and reti...
INTRODUCTION Gyrate atrophy of the choroid (GA) is a rare, inherited choroidal dystrophy that results in progressive deterioration in peripheral and night vision. This is the first documentation of GA in Singapore. CLINICAL PICTURE This report illustrates 2 cases of a sibling pair from a consanguineous union, presenting with the classical clinical features and biochemical abnormality of this ...
Gyrate atrophy (GA) is a rare, progressive metabolic choroid and retinal degeneration that results from a deficiency of the pyridoxal phosphate-dependent mitochondrial matrix enzyme ornithine aminotransferase. Here, we report the case of a 40-yearold woman who presented with a gradual decline in visual acuity since puberty, along with a history of high myopia and cataract surgery. She was admit...
Gyrate atrophy of the choroid and retina is a rare inherited form of chorioretinal degeneration due to a deficiency of ornithine aminotransferase (OAT). We localized the enzyme in rat ocular tissues using immunocytochemical procedures. Immunoreactivity was observed in the epithelia of ciliary body, iris, and lens. Retinal pigment epithelium and Müller cells were immunoreactive in the retina. A ...
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