Optic Atrophy with Demyelinating Disease of CNS
General: Autosomal dominant; demyelinated optic nerves appear smaller than normal and are pale white or gray in color; blood vessels may seem to be less prominent than normal.
Ocular: Optic neuritis; Leber optic atrophy.
Clinical: Ataxia; leg weakness; dysarthria; hemiparesis.
Lees F. Leber's disease with symptoms resembling disseminated sclerosis. J Neurol Neurosurg Psychiatry 1964; 27: 415-421.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Miller NR, ed. Walsh and Hoyt's Clinical Neuro-Ophthalmology, vol. 5, 4th ed. Baltimore: Williams & Wilkins, 1994: 4272.
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