Diaper C J
Eye (Lond). 1994;8 ( Pt 4):448-52. doi: 10.1038/eye.1994.106.
Three siblings with severe granular corneal dystrophy are described. They are most likely to be homozygous for the dominantly inherited gene. They are offspring of a consanguineous marriage, with both parents affected with corneal dystrophies. The case reports describe the severe course of this condition, requiring multiple grafting procedures. Clinical pictures of the family are shown.
本文描述了三名患有严重颗粒状角膜营养不良的兄弟姐妹。他们很可能是显性遗传基因的纯合子。他们是近亲结婚的后代,父母双方都患有角膜营养不良。病例报告描述了这种疾病的严重病程,需要多次移植手术。文中展示了该家族的临床图片。