回旋形脉络膜视网膜萎缩(GCR),Fuchs(1896年)曾首次报告,系属于脉络膜视网膜营养障碍的原发性脉络膜萎缩型。最主要的症状为进行性夜盲及视野异常。眼底镜检查可见脉络膜视网膜萎缩病变呈回旋形。近来有体液成分异常的学说。Simell与Takki(1973)发现GCR患者的血液中乌氨酸水平增高,是由于与氨基酸代谢有关的乌氨酸转氨酶缺乏及与此相关的代谢物质不正常。 GCR是由于常染色体隐性遗传的罕见疾病。作者报告一例男性17岁,幼年时即夜盲,视力不好,最近视野缩小。患者双亲有血缘关系,其家 Convolutional choroidal retinal atrophy (GCR), Fuchs (1896) was first reported, belongs to the chorioretinal dystrophy primary choroidal atrophy. The main symptoms of progressive night blindness and abnormal vision. Fundus examination showed choroidal retinal atrophy lesions were convoluted. Recent body fluid abnormalities theory. Simell and Takki (1973) found that elevated urinary levels of glycine in patients with GCR were due to a deficiency in the aminotransferase of the amino acid metabolism and the associated metabolic abnormalities. GCR is a rare disease due to autosomal recessive inheritance. The authors report that a male, 17 years old, had night blindness at infancy, poor eyesight and a recent loss of vision. Patient parents have kinship, their home