Bilateral anophthalmia and unilateral microphthalmia in two siblings

A family pedigree consisting of four uneventful pregnancies and deliveries is described. The 2nd sibling suffered from bilateral anophthalmia while the 4th presented a unilateral microphthalmia. Although the microphthalmia was originally interpreted as a possible manifestation of the same genetic trait expressed as bilateral anophthalmia in the elder sister, careful ophthalmic examination unveiled the real cause. A central corneal scar along with cataractous lens and a relatively clear peripheral cornea observed in the microphthalmic eye were compatible with an in utero perforation of the globe. Indeed, we believe that the perforation occurred at the time of the amniocentesis performed during midtrimester of this pregnancy.