Peters' anomaly: a clinicopathologic study.

Two infants were born with bilateral Peters' anomaly. The first baby was a girl, born prematurely at 35 weeks of gestation and who died 8 days later. The second infant was a boy, born at 38 weeks of gestation, who had severe conotruncal abnormality of the heart. Both babies had distinctive facial dysmorphism and severe central nervous system abnormalities including partial or complete absence of the corpus callosum and cerebral calcifications. Biochemical and genetic investigations showed no abnormalities in either child and there was no family history of genetic disorders. Neither case showed evidence of an intrauterine infection. Postmortem ocular findings in the first infant included bilateral herniation of the ruptured cataractous lens into the posterior corneal defect, iridocorneal adhesions, persistent hyperplastic primary vitreous, and total retinal detachment. The left eye of the second infant was eviscerated at 11 months of age because of recurrent, spontaneous perforation. Pathologic ocular findings included large fragments of lens material adherent to the posterior corneal stroma through a large central defect in Descemet's membrane and endothelium, fibrovascular proliferation of the adjacent corneal stroma, and iridocorneal adhesions.