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Updated: Jun 21, 2026

Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
Optic neuropathy in a patient with pyruvate dehydrogenase deficiency
Juan E Small1, Guido E Gonzalez, Karina E Nagao
1Department of Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA. jsmall1@partners.org
Abstract:
Pyruvate dehydrogenase (PDH) deficiency is a genetic disorder of mitochondrial metabolism. The clinical manifestations range from severe neonatal lactic acidosis to chronic neurodegeneration. Optic neuropathy is an uncommon clinical sequela and the imaging findings of optic neuropathy in these patients have not previously been described. We present a patient with PDH deficiency with bilateral decreased vision in whom MRI demonstrated bilateral optic neuropathy and chiasmopathy.
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