Congenital Isolated Bilateral Anophthalmia: A Case Report

Congenital anophthalmia is the complete absence of the eye resulting from a failure of optic vesicle formation during early embryogenesis. It may present as a unilateral or bilateral condition and can occur as an isolated anomaly or as part of a syndromic disorder. We report the case of a full-term newborn admitted on the second day of life for the management of bilateral congenital anophthalmia. Family history was notable for anophthalmia in three cousins belonging to the shared parental lineage, suggesting a possible genetic predisposition. The diagnosis is primarily clinical and is confirmed by ocular ultrasonography and cranio-orbital magnetic resonance imaging (MRI). Several etiologies may be involved, including genetic mutations, chromosomal abnormalities, intrauterine infections, and exposure to teratogenic agents during pregnancy. The birth of a child with congenital anophthalmia constitutes a significant challenge for both the family and healthcare providers. Optimal management therefore requires a multidisciplinary approach involving ophthalmologists, pediatricians, geneticists, psychologists, and the child's caregivers.