Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts

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.

Photo and Video Essay Section Editors: Melissa W. Ko, MD Dean M. Cestari, MD Peter Quiros, MD Bilateral Morning Glory Anomaly With Optic Nerve Multiple Cysts Xuemei Zhu, MD, Yi Wang, MD, Jianhong Liang, MD FIG. 1. Bilateral morning glory anomaly with optic nerve cysts. Funduscopy showed optic disc excavation with peripapillary atrophy in both eyes (A, B). Optical coherence tomography showed optic disc excavation obviously in both eyes (C, D) and cystoid macular edema and subretinal fluid in the right eye (E), whereas thickened central retinal thickness and epiretinal membrane were observed in the left eye (F). Multiple, well-circumscribed, nonenhancing cystic lesions in the proximal portion of optic nerves in the left eye were observed on MRI axial, sagittal, and coronal scans (G–I), arrows indicate the cysts. 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 Department of Ophthalmology and Clinical Centre of Optometry, Peking University People’s Hospital, Eye Diseases and Optometry Institute, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, China. The authors report no conflicts of interest. Address correspondence to Jianhong Liang, MD, Department of Ophthalmology and Clinical Centre of Optometry, Peking University People’s Hospital, 11 Xizhimen South Street, Xicheng District, Beijing, 100044, China; E-mail: [e-mail] Zhu et al: J Neuro-Ophthalmol 2021; 41: e215-e216 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. Journal of Neuro-Ophthalmology 2021;41:e215–216 doi: 10.1097/WNO.0000000000001098 © 2020 by North American Neuro-Ophthalmology Society A n 8-year-old boy, diagnosed with bilateral morning glory anomaly for 3 years, was referred to our hospital for increasing subretinal fluid and cystoid macular edema in e215 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited. Photo and Video Essay the right eye. The visual acuity was 20/100 and 20/200 in the right and left eye, whereas spherical equivalent refractive was +2.25 D and 213.50 D, respectively. Fundus examination showed optic disc excavation with peripapillary atrophy in both eyes (A, B). Optical coherence tomography showed optic disc excavation obviously in both eyes (C, D) and cystoid macular edema and subretinal fluid in the right eye (E), whereas thickened central retinal thickness and epiretinal membrane were observed in the left eye (F). Multiple, wellcircumscribed, nonenhancing cystic lesions in the proximal portion of optic nerves in the left eye were observed on MRI axial, sagittal, and coronal scans (G–I, arrows indicate the cysts; Fig. 1). Genetic testing was performed and a sporadic mutation of PAX2 gene was identified in the patient. Then further, renal tests showed proteinuria. The final diagnosis of this patient was renal coloboma syndrome (RCS). The ophthalmic features of RCS include optic disc dysplasia, optic disc pit, optic disc coloboma, and morning glory anomaly, whereas the extraocular manifestations include renal hypoplasia, vesicoureteral reflux, cerebrovascular anomalies, and mild sensorineural hearing loss. PAX2 gene was identified as the cause of RCS, but it can be negative in half cases (1). In this case of bilateral morning glory optic nerve malformation, the renal disease was underdiagnosed. Bilaterality of the optic nerve malformation is strongly e216 suggestive of genetic or systemic disease. The current literature recommendations do not specify workup in cases of optic nerve colobomas. We suggest that patients with colobomatous optic nerve malformations, including morning glory, undergo general physical examination looking for: heart defects, choanal atresia, genitourinary, auricular, and midline facial defects among other abnormalities. We also suggest a simple nephrologic investigation such as a routine urine test and/or renal ultrasound to check for renal hypoplasia, and neuroimaging check for cerebrovascular anomalies and midline cranial defects. Genetic testing can be a useful tool to guide the workup. STATEMENT OF AUTHORSHIP Category 1: a. Conception and design: X. Zhu and J. Liang; b. Acquisition of data: X. Zhu and Y. Wang; c. Analysis and interpretation of data: X. Zhu, Y. Wang, and J. Liang. Category 2: a. Drafting the manuscript: X. Zhu; b. Revising it for intellectual content: Y. Wang and J. Liang. Category 3: a. Final approval of the completed manuscript: X. Zhu, Y. Wang, and J. Liang. REFERENCE 1. Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL: Renal coloboma syndrome. Ophthalmology 2001;108:1912–1916. Zhu et al: J Neuro-Ophthalmol 2021; 41: e215-e216 Copyright © North American Neuro-Ophthalmology Society. Unauthorized reproduction of this article is prohibited.