Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India
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منابع مشابه
Gyrate atrophy of choroid and retina with myopia, cataract and systemic proximal myopathy: A rare case report from rural India.
Gyrate atrophy is a rare metabolic disease with autosomal recessive inheritance pattern characterised by hyperornithinemia and typical ocular findings. This report presents a 17-year-old intellectually challenged girl consulting for a progressive fall of visual acuity with night blindness. Fundus examination showed patches of chorioretinal atrophy with typical scalloped borders and peri vascula...
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 کاملGyrate 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 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: australasian medical journal
سال: 2012
ISSN: 1836-1935
DOI: 10.4066/amj.2012.1540