Isashiki Y, Ohba N
Br J Ophthalmol. 1985 Jul;69(7):522-4. doi: 10.1136/bjo.69.7.522.
A 12-year-old boy and an 11-year-old girl, siblings of healthy, consanguineous parents, had a bilateral retinal dystrophy with a gradual loss of vision. The brother showed a bull's eye macular change with sparse fundus flavimaculatus type flecks. The sister had numerous fleck lesions of fundus flavimaculatus throughout the posterior fundus, but there was virtually no macular change. Thus the siblings presented instances of polymorphic expressivity of fundus flavimaculatus.
一名12岁男孩和一名11岁女孩为健康近亲父母的子女,患有双侧视网膜营养不良,视力逐渐丧失。男孩表现为黄斑部靶心样改变,伴有少量眼底卵黄样黄斑营养不良型斑点。女孩整个眼底后极部有大量眼底卵黄样黄斑营养不良的斑点状病变,但黄斑部几乎没有改变。因此,这对兄妹表现出眼底卵黄样黄斑营养不良的多态性表达情况。