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Semin Neurol 2001; 21(3): 275-292
DOI: 10.1055/s-2001-17945
Copyright © 2001 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662

Neuro-ophthalmology of Mitochondrial Diseases

Valérie Biousse1 2 , Nancy J. Newman1 2 3
  • 1Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia
  • 2Department of Neurology, Emory University School of Medicine, Atlanta, Georgia
  • 3Department of Neurological Surgery, Emory University School of Medicine, Atlanta, Georgia
Further Information

Publication History

Publication Date:
18 October 2001 (online)

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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.

KEYWORD

Mitochondrial disease - optic neuropathy - Leber's hereditary optic neuropathy - ophthalmoplegia - CPEO - MELAS - pigmentary retinopathy - encephalopathy - homonymous hemianopia - cortical blindness

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