Jaureguy B M, Hall J G
Clin Genet. 1979 Jan;15(1):97-109. doi: 10.1111/j.1399-0004.1979.tb02033.x.
Although autosomal dominant inheritance of isolated ectopia lentis has been described, the literature contains old and unclear reports concerning the evaluation of skeletal or metabolic abnormalities. We report a family in which congenital isolated ectopia lentis occurs in five members of two generations in a pattern consistent with autosomal dominant inheritance.
虽然已有孤立性晶状体异位常染色体显性遗传的描述,但文献中关于骨骼或代谢异常评估的报道陈旧且不明确。我们报告了一个家族,其中两代人中的五名成员出现先天性孤立性晶状体异位,其模式符合常染色体显性遗传。