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

نویسندگان

  • Alireza Javadzadeh
  • Davood Gharabaghi
چکیده

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

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منابع مشابه

Gyrate 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,...

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عنوان ژورنال:
  • Journal of Medical Case Reports

دوره 1  شماره 

صفحات  -

تاریخ انتشار 2007