Bilateral Optic Nerve Colobomas in Infant with Tetraploidy

Purpose:To describe the previously unreported ocular anomalies in the rare condition of tetraploidy.Methods:This study is a retrospective case report of a 23-day-old male infant with tetraploidy. RetCam fundus photography and neuroimaging were performed.Results:This 23-day-old male infant was born at full term and found to have tetraploidy with numerous congenital anomalies including bilateral optic nerve colobomas, left microphthalmia, vitreous hemorrhage, and septo-optic dysplasia.Conclusion:Infants with tetraploidy can present with ocular anomalies and while hospitalized should be examined by an ophthalmologist.