Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to vitamin B6
نویسندگان
چکیده
منابع مشابه
Gyrate 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: 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 with hyper-ornithinemia responsive to vitamin B6: a case report
BACKGROUND Gyrate atrophy of the retina and choroid is a rare autosomal recessive inherited disease, characterized by progressive chorioretinal atrophy that results in progressive deterioration of peripheral and night vision and leading to blindness. CASE PRESENTATION This report presents a case of a 28-year-old man consulting for a progressive fall of visual acuity with hemeralopia. Eye fund...
متن کاملClinical trials of vitamin B6 and proline supplementation for gyrate atrophy of the choroid and retina.
Five patients with gyrate atrophy of the choroid and retina were examined ophthalmologically, especially ophthalmoscopically, to evaluate trials of vitamin B6 (pyridoxine) or supplementary proline. The oral administration of vitamin B6 was tried in two patients. The vitamin did not alter the serum ornithine level and the progression of chorioretinal atrophy in one patient (case 2). Despite a re...
متن کاملGyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.
Patients with gyrate atrophy of the choroid and retina have 10- to 20-fold increased ornithine concentrations in body fluids and significantly reduced activity of ornithine aminotransferase in lymphocytes and cultured fibroblasts. We administered intravenous arginine to six patients and six controls to study in vivo inhibition by high ornithine concentrations of arginine-glycine transamidinase,...
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ژورنال
عنوان ژورنال: Case Reports
سال: 2011
ISSN: 1757-790X
DOI: 10.1136/bcr.07.2010.3200