Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia
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چکیده
منابع مشابه
Gyrate atrophy of the choroid and retina associated with hyperornithinaemia.
The inheritance of the autosomal recessive type of gyrate atrophy of the choroid and retina seems well documented (Botermans, I 972), but the aetiology of the disease is still unknown. Animal experiments and some disturbances of lipid, carbohydrate, and protein metabolism connected with chorio-retinal degenerations in man support the possibility of an enzymatic disorder as an aetiological facto...
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 کاملGenetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.
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...
متن کاملGyrate atrophy of the choroid and retina with hyperornithinemia.
A case of gyrate atrophy of the choroid and retina and hyperornithinemia in a 28-year-old man was subjected to extensive clinical and biochemical investigation. The familial occurrence of the ocular disease and of abnormality of amino acids was unique to this patient, being absent in parents and siblings. He presented with progressive visual loss, and had cataracts and large areas of peripheral...
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: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2007
ISSN: 0022-3050
DOI: 10.1136/jnnp.2006.101386