伴有高鸟氨酸血症的脉络膜和视网膜回旋性萎缩对维生素B6有反应：病例报告
Gyrate atrophy of the choroid and retina with hyper-ornithinemia responsive to vitamin B6: a case report.
作者信息
Javadzadeh Alireza, Gharabaghi Davood
机构信息
Retina Service, Department of Ophthalmology, Nikookari Hospital - Drug of Applied research center, Tabriz University of Medical Sciences, Tabriz, Iran.
出版信息
J Med Case Rep. 2007 Jun 12;1:27. doi: 10.1186/1752-1947-1-27.
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.
背景
视网膜和脉络膜回旋性萎缩是一种罕见的常染色体隐性遗传病，其特征是进行性脉络膜视网膜萎缩，导致周边视力和夜间视力逐渐恶化并最终失明。
病例报告
本报告介绍了一名28岁男性患者，因进行性视力下降伴昼盲前来就诊。眼底镜检查显示融合性圆形脉络膜视网膜萎缩区域。视野和视网膜血管造影均有改变。检测到血浆鸟氨酸水平升高（629 nmol/mL），诊断为视网膜和脉络膜回旋性萎缩。患者接受了高剂量维生素B6补充治疗（300 mg/d，持续6个月），其血清鸟氨酸水平成功降低。
结论
高鸟氨酸血症中脉络膜视网膜萎缩的确切机制尚不清楚，一小部分患者对维生素B6补充治疗有反应。
Zotero 插件