同型胱氨酸尿症是一种少见的先天性代谢障碍性疾病,国内外报道甚少,现将我们所遇3例报告如下:例1:男,6岁。因双眼视力障碍3年,伴夜盲1年而就诊。查体:患儿智力发育较差,体型瘦长,全身皮肤白,面颊及背部血管扩张,皮下脂肪少,肌肉松弛。明显鸡胸,胸椎稍向后凸,膝内翻,空凹足,躯干及四肢细长,蜘蛛状指趾。眼科检查:双眼视力3.6,散瞳检影:右眼-13.00DS(?)-3.00DC×180°＝4.0,左眼-13.00DS(?)-2.50DC×l80°=4.0。散瞳后见双 Homocysteineuria is a rare congenital metabolic disorders, few reports at home and abroad, now we encounter three cases reported as follows: Example 1: male, 6 years old. Due to binocular vision impairment for 3 years, with blindness for 1 year and treatment. Physical examination: children with poor mental development, body length, body white, cheek and dorsal vasodilatation, subcutaneous fat less, muscle relaxation. Obvious chicken breast, thoracic slightly kyphosis, varus knee, hollowed feet, trunk and limbs slender, spider-like toe. Eye examination: binocular vision 3.6, mydriatic retinoscopy: right eye -13.00DS (?) - 3.00DC × 180 ° = 4.0, left eye -13.00DS (?) - 2.50DC × l80 ° = 4.0. See double after mydriasis