Title Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts
Authors Zhu, Xuemei
Wang, Yi
Liang, Jianhong
Affiliation Peking Univ, Beijing Key Lab Diag & Therapy Retinal & Choroid, Eye Dis & Optometry Inst, Coll Optometry,Hlth Sci Ctr,Peoples Hosp,Dept Oph, Beijing, Peoples R China
Peking Univ, Beijing Key Lab Diag & Therapy Retinal & Choroid, Eye Dis & Optometry Inst, Coll Optometry,Hlth Sci Ctr,Peoples Hosp,Clin Ctr, Beijing, Peoples R China
Issue Date Jun-2021
Publisher JOURNAL OF NEURO-OPHTHALMOLOGY
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. (C) 2020 by North American Neuro-Ophthalmology Society
URI http://hdl.handle.net/20.500.11897/628856
ISSN 1070-8022
DOI 10.1097/WNO.0000000000001098
Indexed SCI(E)
Appears in Collections: 人民医院

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