Congenital Malformations of the Eye

Ophthalmic pathologists today are in a position to make anatomic diagnoses of conditions about which they knew little or nothing a decade ago. Recent clinical, epidemiologic, and laboratory investigations have established the cause of some congenital malformations and provided clues as to the pathogenesis of others. These advances have enabled the pathologist to interpret the potential diagnostic significance of certain combinations of anatomic changes as, for example, the association of aniridia and congenital cataract with Wilms' tumor. While a complete autopsy is always more revealing than examination of a single organ, careful macroscopic and microscopic examination of the eyes alone may provide enough information for a presumptive diagnosis. The ocular lesions observed in the 13-15 trisomy syndrome, Lowe's syndrome, and on the congenital rubella syndrome provide particularly good examples.