Familial retinal arteriolar tortuosity: a review.
Familial retinal arteriolar tortuosity is a rare disorder with autosomal dominant inheritance. It is characterized by a pathognomic pattern of progressive, pronounced tortuosity of the arterioles of second and third order in the macular and peripapillary area developing during childhood or early adulthood. The disorder can be complicated by intra- or preretinal hemorrhages that occur spontaneously or during physical exertion. These hemorrhages can be asymptomatic if they do not involve the fovea. Clearing of the hemorrhages without treatment and recovery of full visual acuity is the rule, even if the central macula is involved. In most cases, no other vascular malformations or associated systemic diseases have been found. In some cases, retinal hemorrhages may precede the development of the tortuosity or the tortuosity may remain subtle, even if the patients suffer from recurrent hemorrhages. The ophthalmologist should be aware of familial retinal arteriolar tortuosity as a possible cause for retinal hemorrhages.
Sutter
Florian K P
FK
Klinik für Augenkrankheiten, Kantonsspital, St. Gallen, Switzerland. sutteradler@gmx.ch
Helbig
Horst
H
D000293:Adolescent; D000328:Adult; D001160:Arterioles; D002648:Child; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012161:Retinal Artery / Q000002:abnormalities* / Q000473:pathology; D012166:Retinal Hemorrhage / Q000175:diagnosis / Q000235:genetics*; D014792:Visual Acuity