Ocular pathology in trisomy 18 (Edwards' syndrome).
A case of a full-term female with confirmed trisomy 18 who died a few hours after her delivery is presented. In addition to many severe systemic malformations, some ocular findings are described. They include cataract and hypoplasia of optic nerves in both eyes, and juxtapapillary coloboma, retinal dysplasia and Bergmeister's papilla in the left eye. The last finding is a new one in trisomy 18.
D002829:Choroid / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009900:Optic Nerve / Q000002:abnormalities*; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D014314:Trisomy