Hee Kyung Yang; Young Suk Yu; Jeong-Min Hwang

doi:10.3341/jkos.2008.49.8.1360

Journal List > J Korean Ophthalmol Soc > v.49(8) > 1008063

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Yang, Yu, and Hwang: Joubert Syndrome Associated with Leber’s Congenital Amaurosis

Original Article

J Korean Ophthalmol Soc 2008;49(8):1360-1363.

Published online: 7 September 2008

DOI: https://doi.org/10.3341/jkos.2008.49.8.1360

Joubert Syndrome Associated with Leber’s Congenital Amaurosis

Hee Kyung Yang, M.D.^1,², Young Suk Yu, M.D., Ph.D.^1,², Jeong-Min Hwang, M.D., Ph.D.^1,³

Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea

Seoul National University Hospital Clinical Research Institute^², Seoul, Korea ³

Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea

Address reprint requests to Jeong-Min Hwang, M.D., Ph.D. Department of Ophthalmology, Seoul National University Bundang Hospital #166 Gumi-ro, Bundang-gu, Seongnam, Gyeonggi-do 463-707, Korea Tel: 82-31-787-7379, Fax: 82-31-787-4057, E-mail: hjm@snu.ac.kr

Received 15 April 2008 Accepted 20 November 2007

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 Joubert syndrome associated with Leber’s congenital amaurosis.

Case Summary

A 7-month-old boy was referred for poor eye contact and esodeviation since birth. He could not fixate with his eyes or follow objects. Nystagmus in both eyes and moderate angle esotropia were present. Slit lamp examination and fundus examination showed no significant findings. Visual evoked potential and electroretinogram were extinguished in both eyes. The patient showed abnormal respiratory patterns, developmental delay, and hypotonia. Brain MRI showed aplasia of the cerebellar vermis, and he was diagnosed with Joubert syndrome. At 2 years of age, he was moderately able to fixate with his eyes and to crudely follow objects. Nystagmus and esotropia had diminished, but the visual evoked potential and electroretinogram still showed no response in both eyes.

Conclusions

Leber’s congenital amaurosis can be associated with Joubert syndrome, and children with Leber’s congenital amaurosis should be evaluated for associated systemic abnormalities.

Keywords: Cerebellar vermis aplasia, Joubert syndrome, Leber’, s congenital amaurosis

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Figure 1.

Visual evoked potentials were extinguished in both eyes.

Figure 2.

Electroretinogram showed no reponse in both eyes.

Figure 3.

The classic ”molar tooth sign” of Joubert syndrome is shown in the T1-weighted transverse MRI image. Note the thickened superior cerebellar peduncles (indicated by the white arrows) that do not decussate, so the isthmus is reduced, causing the interpeduncular fossa (black arrow) to be enlarged.

Figure 4.

T1-weighted sagittal MRI image shows aplasia of the cerebellar vermis and enlarged mid-fourth ventricle (white arrow).

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