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Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report
© Javadzadeh and Gharabaghi; licensee BioMed Central Ltd. 2007
Received: 18 January 2007
Accepted: 12 June 2007
Published: 12 June 2007
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.
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.
The exact mechanism of chorioretinal atrophy in hyper-ornithinemia is not known and a small percentage of the affected people respond to Vitamin B6 supplementation.
Gyrate atrophy (GA) of the Choroid and Retina was first described by Fuchs in 1896. Human hereditary deficiency of ornithine aminotransferase (OAT) activity is transmitted as an autosomal recessive trait, and results in 10 to 20-fold increased level of plasma ornithine and is shown to be associated with GA. The initial complaint of decreasing visual acuity and night vision is followed by the appearance of sharply demarcated, circular areas of chorioretinal atrophy with hyperpigmented margins in the midperiphery of the fundus. This appears through the first three decades of life and leads to blindness in the fourth to seventh decades. Myopia, posterior subcapsular cataracts, and vitreous opacities may also be present.
Ornithine delta aminotransferase (OAT) is a mitochondrial nuclear encoded pyridoxal phosphate enzyme that catalyzes the interconversion of ornithine glutamate and proline. Gyrate atrophy is a genetic disorders with increased frequency in the Finnish population with an incidence of one case per 50,000 individuals in Finland. Valle in a review in 2001 revealed that amongst the over 150 biochemically documented cases of GA, about one third of them were from Finland and only seven of them (less than 5%) had been responsive to therapy with Vitamin B6 dietary supplementation.
We report a rare case of a GA, in which the patient's high level of serum ornithine was responsive to therapy with vitamin B6 dietary supplement and was reduced to near normal level.
Full verbal and written consent has been obtained from the patient for submission of this manuscript for publication. The authors declare that no funding was required for the writing and submission of the manuscript.
- Fuchs E: Ueber zwei der retinitis pigmentosa verwandte krankheiten (retinitis punctata albescens und atrophia gyrata choroideae et retinae). Arch Augenheilkd. 1896, 32: 111-6.Google Scholar
- Takki K, Simell O: Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia. Br J Ophthalmol. 1974, 58: 907-16.View ArticlePubMedPubMed CentralGoogle Scholar
- Simell O, Takki K: Raised plasma-ornithine and gyrate atrophy of the choroid and retina. Lancet. 1973, 1: 1031-3. 10.1016/S0140-6736(73)90667-3.View ArticlePubMedGoogle Scholar
- Takki KK, Milton RC: The natural history of gyrate atrophy of the choroid and retina. Ophthalmology. 1981, 88: 292-301.View ArticlePubMedGoogle Scholar
- Valle D, Simell O: The hyperornithinemias. The metabolic and molecular bases of inherited disease. Edited by: Scriver CR, Beaudet AL, Sly WS. 2001, New York: McGraw-Hill, 1875-95.Google Scholar
- Kaiser-Kupfer M, Kuwabara T, Uga S, Takki K, Valle D: Cataract in gyrate atrophy: clinical and morphologic studies. Invest Ophthalmol Vis Sci. 1983, 24: 432-6.PubMedGoogle Scholar
- Weleber RG, Kennaway NG: Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. Ophthalmology. 1981, 88: 316-24.View ArticlePubMedGoogle Scholar
- Mudd SH: Pyridoxine-responsive genetic disease. Fed Proc. 1971, 30: 970-6.PubMedGoogle Scholar
- McCulloch JC, Arshinoff SA, Marliss EB, Parker JA: Hyperornithinemia and gyrate atrophy of the choroid and retina. Ophthalmology. 1978, 85: 918-28.View ArticlePubMedGoogle Scholar
- Arshinoff SA, Leung K, Strube YNJ: Gyrate Atrophy. Duane's Clinical Ophthalmology. Edited by: William Tasman M. 2005, Philadelphia: Lippincott Williams & WilkinsGoogle Scholar
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