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Leigh's Disease Associated With a Dorsal Midbrain Syndrome
Journal of Pediatric Ophthalmology & Strabismus, 10/08/09
West SK et al. – Leigh's disease is a rare progressive neurodegenerative condition caused by a mitochondrial cytopathy. The authors present the case of a 9–year–old girl with dorsal midbrain syndrome causing convergence retraction nystagmus. Magnetic resonance imaging, skin biopsy, and genetic testing confirmed the cause to be Leigh's disease due to two SURF1 mutations.
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