BILATERAL OPTIC NERVE COLOBOMAS IN INFANT WITH TETRAPLOIDY. Issue Volume 10:Issues 3(2016:Summer) (2016)

• Record Type: Journal Article
• Authors: Beck, Kinley D.; Harper, Clio A.
• Is Part Of: Retinal cases & brief reports. Volume 10:Issues 3(2016:Summer)
• Publication Date: 2016
• Subjects: optic nerve coloboma -- tetraploidy -- retinal coloboma; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000000243
• Languages: English
• ISSNs: 1935-1089

Abstract

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.