tailieunhanh - Báo cáo y học: "Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report."

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report. | Journal of Medical Case Reports BioMed Central Open Access Case report Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6 a case report Alireza Javadzadeh 1 and Davood Gharabaghi2 Address Retina Service Department of Ophthalmology Nikookari Hospital - Drug of Applied research center Tabriz University of Medical Sciences Tabriz Iran and 2Strabismus Service Department of Ophthalmology Nikookari Hospital Tabriz University of Medical Sciences Tabriz Iran Email Alireza Javadzadeh - javadzadehalireza@ Davood Gharabaghi - gharabaghi_dawood@ Corresponding author Published 12 June 2007 Received 18 January 2007 Journal of Medical Case Reports 2007 1 27 doi 1752-1947-1-27 Accepted 12 June 2007 This article is available from http content l l 27 2007 Javadzadeh and Gharabaghi licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract 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 fundoscopy showed regions of confluent rounded chorioretinal atrophy. The visual field and retinal angiography were altered. A high level of plasma ornithine 629 nmol mL was detected and a diagnosis of gyrate atrophy of the retina and choroid was made. The patient was treated with high dose Pyridoxine supplement 300 mg d for 6 months and the ornithine level of his serum was successfully reduced. Conclusion The exact mechanism of .