Background: Congenital aphakia is a rare condition that has been classified as primary when no lens induction of the surface ectoderm occurs and secondary when lens development takes place but later is resorbed or expelled in utero.
Methods: The authors report the clinical and pathologic findings in three infants with congenital aphakia whose eyes were enucleated either at surgery at 11 months or at autopsy after 1 and 3 days of life.
Results: Two cases classified as primary congenital aphakia had severe microphthalmos, anterior segment aplasia, or anomalous development and posterior choroidal and optic disc colobomas. One was in a case believed to be Waardenburg's recessive anophthalmia syndrome and the other had 18 trisomy. A case of secondary congenital aphakia had findings of Peter's syndrome and features suggesting rubella, which had been observed in some previous reports.
Conclusions: Primary congenital aphakia can result from a variety of teratogenic events in the first 4 weeks of embryogenesis and results in microphthalmos and severe anterior segment aplasia/dysplasia. Secondary congenital aphakia is associated with less severe ocular anomalies. The possible role of deletion or mutation involving the PAX6 gene in anterior segment anomalies and induction of lens development is discussed. In addition to chromosomal influences, in utero viral infection, particularly rubella, may play a role in some cases.