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目的了解先天性白内障与遗传因素的关系。方法对来自４个不同家系的先天性白内障患者３６例（７２眼），进行细胞遗传学检测、家系调查及眼科检查。结果４个先天性白内障家系的遗传方式为常染色体显性遗传，１５例患者的染色体核型正常，３６例患者的晶体混浊形态和部位各异。结论先天性白内障是一组具有遗传和临床异质性的晶体病。
Objective To understand the relationship between congenital cataract and genetic factors. Methods Thirty-six patients (72 eyes) with congenital cataract from 4 different pedigrees were studied for cytogenetics, pedigree and ophthalmology. Results The genetic patterns of four congenital cataract families were autosomal dominant. The chromosomal karyotype of 15 patients was normal, and the morphology and location of crystal opacity of 36 patients were different. Conclusion Congenital cataract is a group of inherited and clinical heterogeneity of crystalline disease.