Joubert Syndrome Presented with Ocular Motor Apraxia.

Cho, Eun Hee; Kim, Yong Sik; Jin, Yong Han

Case Report

Journal of the Korean Ophthalmological Society 1995;36(12):2276-2281.
Published online December 1, 1995.

Joubert Syndrome Presented with Ocular Motor Apraxia.

Eun Hee Cho, Yong Sik Kim, Yong Han Jin

Department of ophthalmology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea.

외상성 완전 안구탈출의 수술적 치료

조은희(Eun Hee Cho),김용식(Yong Sik Kim),진용한(Yong Han Jin)

Abstract

Agenesis of the cerebellar vermis, episodic hyperpnea alternating with apnea, abnormal eye movement, ataxia, and psychomotor retardation are shown in Joubert syndrome. This rare syndrome is inherited as an autosomal recessive trait with variable expression. We report the first cases of Joubert syndrome in Korea, to our knowledge, which showed ocular motor apraxia and agenesis of the cerebellar vermis by Magnetic Resornance Image. From these two cases, we describe the correlation between the cerebellar vermian dysfunction and the ocular motor apraxia.

Key Words: Agenesis of the cerebellar vermis;Joubert syndrome;Ocular motor apraxia