Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case reportReport as inadecuate




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Journal of Medical Case Reports

, 1:27

First Online: 12 June 2007Received: 18 January 2007Accepted: 12 June 2007DOI: 10.1186-1752-1947-1-27

Cite this article as: Javadzadeh, A. & Gharabaghi, D. J Med Case Reports 2007 1: 27. doi:10.1186-1752-1947-1-27

Abstract

BackgroundGyrate 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 presentationThis 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.

ConclusionThe exact mechanism of chorioretinal atrophy in hyper-ornithinemia is not known and a small percentage of the affected people respond to Vitamin B6 supplementation.

Electronic supplementary materialThe online version of this article doi:10.1186-1752-1947-1-27 contains supplementary material, which is available to authorized users.

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Author: Alireza Javadzadeh - Davood Gharabaghi

Source: https://link.springer.com/







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