P07.09: Early diagnosis of unilateral anophthalmia

Abstract

We present this case to demonstrate that, with careful fetal exploration, it is possible to diagnose anophthalmia at a very early stage of the pregnancy. We saw a patient at the beginning of 13 weeks and we could not see the left ocular globe while the rest of the exploration was normal, including the right ocular globe. We recommended that the patient have fetal chromosomal analysis and follow-up of the ocular alteration, but the patient never returned. We called the family after the baby's delivery to check on its outcome and were told that the unilateral anophthalmia was confirmed. In this case the unilateral anophthalmia was with orbit, eyelids and tear duct and the baby is being fitted for a prosthesis to develop the orbit. The anophthalmia was isolated and the rest of the examination of the baby was normal. The aim of this presentation is to illustrate that early detection of unilateral anophthalmia is possible. We made the diagnosis at the beginning of 13 weeks. The family told us that after our diagnosis they went to the regional hospital for another ultrasound examination and they were told that the fetus' eyes were normal. Perhaps their mistake was due to the fact that the fetus had the left orbit. If the orbit is missing, the malformation is more evident. For this reason, we recommend searching for both orbits and both lenses. As anophthalmia is often associated with fetal syndromes, we recommend chromosomal analysis and careful fetal examination with special attention being paid to facial and extremity malformations.