Warburg syndrome.
Warburg syndrome is a congenital oculocerebral disorder. It is caused by a genetic defect that simultaneously affects ocular and cerebral embryogenesis. The characteristic ophthalmic findings reflect the cerebral malformation (agyria or lissencephaly). Two cases, siblings, have been described. The characteristic bilateral ocular findings (leukocoria with microphthalmia) have been discussed and contrasted with simulating entities. Since Warburg syndrome is a lethal disorder, it is important to distinguish these affected infants from those with hydrocephalus with a known better prognosis. Lastly, the early recognition of this autosomal recessive disorder should prompt genetic parental counseling.
D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D004677:Encephalocele / Q000235:genetics*; D005123:Eye / Q000473:pathology; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D012163:Retinal Detachment / Q000235:genetics* / Q000473:pathology; D013577:Syndrome