Joubert Syndrome Associated with Leber's Congenital Amaurosis.

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

doi:2008.49.8.1360

J Korean Ophthalmol Soc > Volume 49(8); 2008 > Article

Case Report

Journal of the Korean Ophthalmological Society 2008;49(8):1360-1363.
DOI: https://doi.org/10.3341/jkos.2008.49.8.1360 Published online August 15, 2008.

Joubert Syndrome Associated with Leber's Congenital Amaurosis.

Hee Kyung Yang, Young Suk Yu, Jeong Min Hwang

¹Department of Ophthalmology, Seoul National University College of Medicine, Seoul, Korea. hjm@snu.ac.kr
²Seoul National University Hospital Clinical Research Institute, Seoul, Korea.
³Department of Ophthalmology, Seoul National University Bundang Hospital, Seongnam, Korea.

주버트 증후군 환자에 동반된 레베르선천흑암시

양희경^1,2ㆍ유영석^1,2ㆍ황정민^1,3

Department of Ophthalmology, Seoul National University College of Medicine1, Seoul, Korea / Seoul National University Hospital Clinical Research Institute2, Seoul, Korea / Department of Ophthalmology, Seoul National University Bundang Hospital3, Seongnam, Korea

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.

Key Words: Cerebellar vermis aplasia;Joubert syndrome;Leber's congenital amaurosis