J Korean Ophthalmol Soc.  2007 Sep;48(9):1297-1302.

A Case of Optic Neuropathy Associated with MELAS Syndrome

• Lee MW
• Ahn JH
• Kyung SE
• Lee DC

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.

Keyword

MELAS syndrome; Mitochondrial point mutation; Optic neuropathy

MeSH Terms

Acidosis, Lactic
Brain
Cerebral Infarction
Child
Consciousness
Diagnosis
Epilepsy
Evoked Potentials, Visual
Hemianopsia
Humans
Magnetic Resonance Imaging
Male
MELAS Syndrome*
Molecular Biology
Optic Nerve
Optic Nerve Diseases*
Posterior Cerebral Artery
Pupil Disorders
Vomiting