同型胱氨酸尿症是Field等发现的一种先天性代谢缺陷性遗传病。国内裴琼华等于1981年报告一个家系3个病例。因其眼部症状和全身表现与Marfan氏综合征、Marchesani氏综合征、先天性青光眼、高度近视等疾病相似,故常易误诊。为提高诊治水平,现将我院先前被误诊为Marfan氏综合征或其他眼病的11例同型胱氨酸尿症作一分析。临床资料 11例均为1981年门诊病人,其中5例曾施行过手术,6例系初诊病例,有的曾在外院诊治过。一、性别和年龄:男8例,女3例。来院初诊时年龄为4～37岁,平均16.4岁。二、初诊时主诉:视力不好或进行性下降9例,眼球急剧疼痛、视力丧失2例。三、晶体脱位方向:11例22只眼都有晶体全脱位或半脱位。(一)全脱位:前房5只(2.27％),玻璃 Homocysteineuria is a congenital metabolic defect discovered by Field et al. Pei Qionghua domestic equal to report a family of 3 cases in 1981. Because of its ocular symptoms and systemic manifestations and Marfan’s syndrome, Marchesani’s syndrome, congenital glaucoma, high myopia and other diseases are similar, it is often misdiagnosed. To improve the level of diagnosis and treatment, now in our hospital were previously misdiagnosed as Marfan’s syndrome or other eye diseases, 11 cases of homocystinuria for an analysis. All 11 cases of clinical data were outpatients in 1981, including 5 cases who had undergone surgery, 6 cases were newly diagnosed and some had been treated in the hospital. First, gender and age: 8 males and 3 females. To the hospital when the initial diagnosis of 4 to 37 years old, with an average of 16.4 years old. Second, when the first complaint: poor eyesight or progressive decline in 9 cases, rapid eye pain, loss of vision in 2 cases. Third, the direction of crystal dislocation: 11 cases of 22 eyes have full dislocation or subluxation. (A) dislocation: anterior chamber 5 (2.27%), glass