Fundus flavimaculatus: polymorphic retinal change in siblings.
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.
D002648:Child; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008266:Macula Lutea / Q000473:pathology; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree