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先天性白内障是儿童主要的致盲眼病之一,其病因有遗传和孕期母体或胚胎的全身病变对胚胎晶体造成的损害两大方面。为了解遗传因素在双眼先天性白内障发病中所起的作用,本文对116例患双眼先天性白内障病人进行遗传调查,对其中108例测定血半乳糖-1-磷酸尿苷转移酶(Galactose-1-phoaphate Uridyl Transferase,简称GPUT)活性。材料与方法本文收集1986年1月—1988年4月在中山眼科中心住院或门诊被诊断为双眼先天性白内障病人116例,其中男63例,女53例。对并发性白内障、伴有严重的眼部畸形(如小眼球、无虹膜、脉胳膜缺损等)和全身综合征的病例在本研究中被除外。病人除作详细的病史询问及全面的眼科检查和全身检查
Congenital cataract is one of the major causes of blindness in children, the cause of which is genetic and maternal or embryo during pregnancy systemic lesions on the embryonic crystal damage caused by two major aspects. In order to understand the role of genetic factors in the development of binocular congenital cataracts, 116 patients with congenital cataracts from both eyes were investigated in this study. Among them, 108 cases were tested for galactose-1 -phoaphate Uridyl Transferase (GPUT for short) activity. Materials and MethodsThis article collected 116 patients with congenital cataract diagnosed as binocular in Zhongshan Eye Center from January 1986 to April 1988, including 63 males and 53 females. Cases of concomitant cataract, severe ocular deformities such as small eyeballs, no iris, and amebocyte defect, and systemic syndrome were excluded in this study. In addition to the patient for a detailed medical history inquiry and a comprehensive eye examination and general examination