Familial chorioretinal vascular anastomoses and congenital cataracts.
Familial congenital chorioretinal venous anastomoses in the area of the optic disc in a mother and her daughter are reported. The anomaly was accompanied, in both patients, by bilateral congenital cataracts, bilateral myopic astigmatism with amblyopia, and bilateral abnormal optic discs with corresponding visual field defects. The author postulates that all these ocular anomalies might have been transmitted by the same pleiotropic gene; however, he could not determine the exact mode of transmission of this syndrome. The chorioretinal venous anastomoses include vena vorticosa vaginalis (an accessory vortex vein draining into the pial plexus of the optic nerve sheath) in the mother and optico-ciliary vein in the daughter. The mother also had a dramatic posterior vortex vein that was located between the optic disc and the macula.
D000293:Adolescent; D000328:Adult; D002386:Cataract / Q000150:complications* / Q000151:congenital / Q000235:genetics; D002648:Child; D002829:Choroid / Q000098:blood supply*; D005260:Female; D006801:Humans; D008297:Male; D009216:Myopia / Q000150:complications; D009898:Optic Disk / Q000002:abnormalities; D012169:Retinal Vein / Q000002:abnormalities*; D013577:Syndrome; D014680:Veins / Q000002:abnormalities; D014794:Visual Fields