Progressive inherited retinal arteriolar tortuosity with spontaneous retinal hemorrhages.
Tortuosity of the retinal arterioles complicated by spontaneous retinal hemorrhages is inherited as an autosomal dominant trait. Even when hemorrhages involve the fovea, spontaneous clearing with recovery of normal vision is the rule. We have studied members of three families in which arteriolar tortuosity increases with age. Tortuosity increases most dramatically during adolescence and affects small arterioles in the macular area. Retinal hemorrhages in children from two pedigrees led to extensive laboratory investigation because arteriolar tortuosity, later unmistakeable, was not recognized initially. Inherited retinal arteriolar tortuosity may be overlooked easily, particularly in children. Patients with spontaneous retinal hemorrhages and their relatives should be examined for retinal arteriolar tortuosity before being subjected to cardiovascular or hematologic studies.
D000293:Adolescent; D000328:Adult; D001160:Arterioles / Q000002:abnormalities / Q000473:pathology; D002648:Child; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012166:Retinal Hemorrhage / Q000235:genetics* / Q000473:pathology; D012171:Retinal Vessels / Q000002:abnormalities* / Q000473:pathology