Congenital Optic Disc Coloboma Associated With Right Seventh and Eighth Cranial Nerve Palsy

Hyun Kyung Cho; Dong Hyun Jee

doi:10.3341/jkos.2009.50.10.1600

Journal List > J Korean Ophthalmol Soc > v.50(10) > 1008406

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Cho and Jee: Congenital Optic Disc Coloboma Associated With Right Seventh and Eighth Cranial Nerve Palsy

Original Article

J Korean Ophthalmol Soc 2009;50(10):1600-1604.

Published online: 3 August 2009

DOI: https://doi.org/10.3341/jkos.2009.50.10.1600

Congenital Optic Disc Coloboma Associated With Right Seventh and Eighth Cranial Nerve Palsy

Hyun Kyung Cho, MD, Dong Hyun Jee, MD

Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea, Suwon, Korea

Address reprint requests to Dong Hyun Jee, MD Department of Ophthalmology and Visual Science, College of Medicine, The Catholic University of Korea #93-6 ji-dong, Paldal-gu, Suwon 442-723, Korea Tel: 82-31-249-7343, Fax: 82-31-251-6225, E-mail: carpals@hanmail.net

Received 3 April 2009 Accepted 30 June 2009

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

To report a case of bilateral congenital optic disc coloboma associated with the right seventh and eighth cranial nerve palsy.

Case Summary

A female neonate with right facial palsy (seventh cranial nerve palsy) and right earlobe hypoplasia was referred for examination for retinopathy of prematurity (ROP). Bilateral optic disc coloboma and peripapillary choroidal defect was detected on the fundus examination and the anterior segment examination revealed no specific findings. On the otolaryngologic examination, laryngomalacia and floppy epiglottis were observed and left otitis media and mastoiditis were noted on the temporal bone computed tomography (CT). On the auditory brain stem response (ABR), right electro-potential was not detected and right cochlear nerve palsy (eighth cranial nerve palsy) was diagnosed. Further chromosomal analysis and brain magnetic resonance imaging (MRI) revealed no abnormal findings. However, on echocardiography, an atrial septal defect was detected and on upper gastrointestinal series, gastroesophageal reflux disease (GERD) was diagnosed.

Conclusions

Congenital optic disc coloboma is frequently accompanied by other congenital deformities or abnormalities, and therefore, systemic examinations and tests to detect associated findings are required.

Keywords: Congenital coloboma, Cranial Nerve Palsy, Optic disc hypoplasia

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Figure 1.

Fundus photographs showing bilateral optic disc coloboma and peripapillary choroidal defect (A=right; B=left).

Figure 2.

Temporal bone CT scan demonstrating left otitis media (upper arrow) and mastoiditis (lower arrow).

Figure 3.

Auditory brain stem response showing absence of the right electropotential (left), which indicates right cochlear nerve palsy.

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