Congenital Aphakia: A Clinicopathologic Report of Three Cases

Abstract

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.