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Visual Field Loss in a Patient With Optic Disc Cupping

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A 52-year-old man was referred to the neuro-ophthalmology clinic for evaluation of visual field loss. He had exotropia and amblyopia of the left eye. He was diagnosed as having glaucoma 6 months prior to presentation owing to optic nerve cupping and visual field deficits on automated perimetry and was taking latanoprost. His medical history was significant for pyruvate dehydrogenase deficiency, and his family history was notable for glaucoma in his grandmother. He was being treated by the neurology department for his pyruvate dehydrogenase deficiency with thiamine, vitamin C, and oxaloacetate. His systemic symptoms included hyperhidrosis and episodes of hand tremors, ataxia, and dysarthria that occur every 2 to 3 years.

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Chiasmal syndrome secondary to pyruvate dehydrogenase deficiency

B. Magnetic resonance imaging of the brain/orbits

Junctional scotomas are visual field defects affecting the central or cecocentral visual field in 1 eye with a contralateral temporal deficit that respects the vertical midline. These scotomas localize to the junction of the optic nerve and chiasm and are not compatible with the diagnosis of glaucoma. The most frequent cause of junctional syndrome is pituitary adenoma,1 but it has also been reported in trauma, substance abuse, infection, inflammatory disease such as sarcoidosis or multiple sclerosis, meningioma, or aneurysm.24 Any patient with a junctional scotoma should undergo magnetic resonance imaging of the optic chiasm.

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Article Information

Corresponding Author: Peter J. Savino, MD, Shiley Eye Institute, University of California, San Diego, 9415 Campus Point Dr, San Diego, CA 92093 (psavino@ucsd.edu).

Published Online: May 23, 2019. doi:10.1001/jamaophthalmol.2019.1173

Conflict of Interest Disclosures: Dr Robbins reported support from US Department of Health and Human Services, other support from Nevakar, Prometic, the American Academy of Pediatrics, Elsevier, and Springer and grants from Retrophin and the Hartwell Foundation outside the submitted work. No other disclosures were reported.

Additional Contributions: We thank the patient for granting permission to publish this information.

References
1.
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2.
Savino  PJ, Glaser  JS, Schatz  NJ.  Traumatic chiasmal syndrome.  Neurology. 1980;30(9):963-970. doi:10.1212/WNL.30.9.963PubMedGoogle ScholarCrossref
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Peiris  JB, Ross Russell  RW.  Giant aneurysms of the carotid system presenting as visual field defect.  J Neurol Neurosurg Psychiatry. 1980;43(12):1053-1064. doi:10.1136/jnnp.43.12.1053PubMedGoogle ScholarCrossref
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Behbehani  R, Sergott  RC, Savino  PJ.  Tobacco-alcohol amblyopia: a maculopathy?  Br J Ophthalmol. 2005;89(11):1543-1544. doi:10.1136/bjo.2005.079137PubMedGoogle ScholarCrossref
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DeBrosse  SD, Okajima  K, Zhang  S,  et al.  Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.  Mol Genet Metab. 2012;107(3):394-402. doi:10.1016/j.ymgme.2012.09.001PubMedGoogle ScholarCrossref
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Small  JE, Gonzalez  GE, Nagao  KE, Walton  DS, Caruso  PA.  Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.  Pediatr Radiol. 2009;39(10):1114-1117. doi:10.1007/s00247-009-1344-0PubMedGoogle ScholarCrossref
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Sedel  F, Challe  G, Mayer  JM,  et al.  Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.  J Neurol Neurosurg Psychiatry. 2008;79(7):846-847. doi:10.1136/jnnp.2007.136630PubMedGoogle ScholarCrossref
8.
Naito  E, Ito  M, Takeda  E, Yokota  I, Yoshijima  S, Kuroda  Y.  Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.  Pediatr Res. 1994;36(3):340-346. doi:10.1203/00006450-199409000-00013PubMedGoogle ScholarCrossref
9.
Berendzen  K, Theriaque  DW, Shuster  J, Stacpoole  PW.  Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.  Mitochondrion. 2006;6(3):126-135. doi:10.1016/j.mito.2006.04.001PubMedGoogle ScholarCrossref
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Sofou  K, Dahlin  M, Hallböök  T, Lindefeldt  M, Viggedal  G, Darin  N.  Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.  J Inherit Metab Dis. 2017;40(2):237-245. doi:10.1007/s10545-016-0011-5PubMedGoogle ScholarCrossref
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