BILATERAL OPTIC NERVE COLOBOMAS IN INFANT WITH TETRAPLOIDY. Issue Volume 10:Issues 3(2016:Summer) (2016) - Beck, Kinley D.
Abstract : 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. Abstract : Tetraploidy is exceedingly rare and is associated with numerous congenital anomalies. This is a case report describing and showing the previously unreported ocular anomalies in an infant with tetraploidy. These infants while hospitalized should be evaluated by an ophthalmologist.