Anophthalmia Plus Syndrome: A Case Report of Severe Ocular and Systemic Anomalies in a Neonate

Anophthalmia is a severe congenital ocular malformation characterized by the complete absence of one or both eyes, distinct from microphthalmia, in which the eye is significantly underdeveloped. This case report details a male infant born at 37 weeks of gestation via cesarean section because of a transverse lie and placental abruption, with low birth weight (2100 g), who presented with multiple congenital anomalies including cleft lip and palate, right ear malformation, and severe ocular defects. Despite a prenatal course with limited risk factors and no family history of ocular diseases, postnatal examinations revealed microcornea, microphthalmia, and the absence of the left globe, replaced by cystic tissue. Additional findings included a heart murmur, decreased white matter density on brain ultrasound, and micrognathia. The infant, who developed disseminated intravascular coagulation (DIC) secondary to sepsis, passed away at 21 days of age. This case underscores the complexity of managing anophthalmia, especially when associated with other systemic anomalies, highlighting the need for a multidisciplinary approach, comprehensive genetic evaluation, and supportive care. The unpredictable nature of such anomalies and the limitations of current prenatal care underscore the need for ongoing research and improved diagnostic strategies.