Wilhelmus K R
Cullen Eye Institute, Baylor College of Medicine, Houston, Tex., USA.
Ophthalmologica. 1995;209(5):278-9. doi: 10.1159/000310631.
A 33-year-old woman had keratoconus and retinal cone dystrophy, an association that has not been reported previously. The family history suggested a recessive inheritance pattern. Genetic probes for these conditions are needed to determine whether the coincidental occurrence of keratoconus and cone dystrophy is due to a genetic relationship or was a chance event.
一名33岁女性患有圆锥角膜和视网膜锥体细胞营养不良,这种关联此前尚未见报道。家族史提示为隐性遗传模式。需要针对这些病症的基因探针来确定圆锥角膜和锥体细胞营养不良的同时出现是由于遗传关系还是偶然事件。