Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts. Issue 2 (June 2021)

• Record Type: Journal Article
• Authors: Zhu, Xuemei; Wang, Yi; Liang, Jianhong
• Other Names: Ko Melissa W. section editor.; Cestari Dean M. section editor.; Quiros Peter section editor.
• Is Part Of: Journal of neuro-ophthalmology. Volume 41:Issue 2(2021)
• Publication Date: 2021-06
• Subjects: Neuroophthalmology -- Periodicals; 617.7
• DOI: 10.1097/WNO.0000000000001098
• Languages: English
• ISSNs: 1070-8022

Abstract

Abstract : Abstract: We herein describe a pediatric case of bilateral morning glory anomaly whose retrobulbar cysts and renal disease were underdiagnosed, and finally, he was diagnosed with renal coloboma syndrome. We recommend patients with colobomatous optic nerve malformations undergo a complete workup to avoid missed diagnosis, which includes (i) general physical examination looking for heart defects, genitourinary, auricular, and midline facial defects among other abnormalities; (ii) simple nephrologic investigations such as routine urine test and/or renal ultrasound to check for renal hypoplasia; and (iii) neuroimaging check for cerebrovascular anomalies and midline cranial defects. Genetic testing can be a useful tool to guide the workup.