Neuro-Ophthalmology of Mitochondrial Diseases

Valérie Biousse, MD, Ophthalmology and Neurology, and Nancy J. Newman, MD, Ophthalmology, Neurology, and Neurological Surgery, Emory University School of Medicine, Atlanta, Georgia. 

Semin Neurol. 2001;21(3) 

In This Article

Abstract and Introduction

Abstract

The afferent and efferent visual pathways within the central nervous system are frequently involved in mitochondrial diseases. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of these disorders. The four most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.
Objectives. On completion of this article the reader will be able to recognize the neuro-ophthalmological manifestations of mitochondrial diseases and state the criteria for diagnosis of various subtypes, including Leber's disease, chronic progressive external ophthalmoplegia (CPEO), and MELAS.
Accreditation. The Indiana University School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.
Credit. The Indiana University School of Medicine designates this educational activity for a maximum of 1.0 hours in category one credit toward the AMA Physicians Recognition Award. Each physician should claim only those hours of credit that he/she actually spent in the educational activity.
Disclosure. Statements have been obtained regarding the authors' relationships with financial supporters of this activity. There is no apparent conflict of interest related to the context of participation of the authors of this article.

Introduction

The mitochondrial diseases are a heterogeneous group of disorders in which clinical presentation, inheritance, biochemical or genetic analysis, or histopathology suggest primary mitochondrial dysfunction.[1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20] Each cell's cytoplasm contains hundreds of mitochondria responsible for generating most of the energy needed for cellular growth, function, and maintenance. More mitochondria are found in those cells with particularly high energy requirements. The central nervous system (including the eye) is most reliant on mitochondrial energy production, followed by the cardiac conduction system, oxidative skeletal muscle, the kidneys, and the liver. This is why the central nervous system, including the eye and the visual pathways, is frequently involved in these disorders. Neuro-ophthalmic signs figure prominently and may be the presenting or even sole manifestation of the disease ( Tables 1, 2, and 3 ).

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