A Case of Optic Neuropathy Associated with MELAS Syndrome.

Lee, Myung Won; Ahn, Jung Hyun; Kyung, Sung Eun; Lee, Dong Cho

Case Report

Journal of the Korean Ophthalmological Society 2007;48(9):1297-1302.
Published online September 30, 2007.

A Case of Optic Neuropathy Associated with MELAS Syndrome.

Myung Won Lee, Jung Hyun Ahn, Sung Eun Kyung, Dong Cho Lee

Department of Ophthalmology, Dankook University College of Medicine, Cheonan, Korea. cataract@empal.com

MELAS 증후군 환자에서 발견된 시신경병증 1예

이명원,안정현,경성은,이동초

Department of Ophthalmology, Dankook University College of Medicine, Cheonan, Korea

Correspondence: Dong Cho Lee, M.D.

Abstract

PURPOSE
The purpose of this case report is to describe accompanying ocular findings, especially optic neuropathy, in a patient with MELAS syndrome. METHODS: A 10-year-old male patient who had lactic acidosis and neurological symptoms (loss of consciousness, vomiting, epilepsy, decreased vision, and constricted visual field), underwent a brain magnetic resonance imaging (MRI) scan and a molecular genetic analysis. RESULTS: A diagnosis of cerebral infarction due to occlusion in the right posterior cerebral artery was made and confirmed by MRI scan. The diagnosis of MELAS syndrome was confirmed by performing molecular genetic analysis demonstrating the transformation of the mitochondrial tRNAleu(UUR) gene (MTTL1) A to G(3243). According to the ocular examinations, the patient's left eye showed decreased vision, hemianopsia, relative afferent pupillary defects, mild swelling of optic nerve, and decreased amplitude on visual evoked potential exam. CONCLUSIONS: We encountered a case of MELAS syndrome involving optic neuropathy, which can (although rarely) occur with this syndrome. Therefore, in patients with an optic neuropathy of uncertain etiology, clinicians should consider performing comprehensive ocular exams and molecular genetic exams to rule out the possibility of genetic diseases.

Key Words: MELAS syndrome;Mitochondrial point mutation;Optic neuropathy