Anterior ischemic optic neuropathy in a patient with Crohn's disease and aberrant MTHFR and GPIIIa gene variants

J Crohns Colitis. 2010 Oct;4(4):471-4. doi: 10.1016/j.crohns.2010.02.008. Epub 2010 Mar 16.

Abstract

Large spectrums of ophthalmic manifestations from the anterior to the posterior segment have been so far reported in patients with inflammatory bowel disease. Anterior ischemic optic neuropathy is caused by acute ischemic infarction of the optic nerve head and is distinguished in two different types, non-arteritic anterior ischemic optic neuroparhy (NAION) which is the most frequent type and arteritic anterior ischemic optic neuropathy. Non-arteritic anterior ischemic optic neuroparhy may result in severe visual field loss. We present the case of a 69 year-old man with known history of Crohn's disease that was referred to the Department of Ophthalmology after noticing sudden blurred vision of his left eye. Ophthalmologic examination revealed a corrected visual acuity of 8/10 OS and 10/10 OD. Pupil examination showed a relative afferent pupillary defect of the left pupil and fluoroangiography revealed hyperfluorescence of the left optic disc, indicating edema and NAION attack on his left eye. Genetic analysis showed that the patient was homozygous for MTHFR C677T genetic polymorphism and A1/A2 heterozygous for GPIIIa polymorphism.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Crohn Disease / complications*
  • Crohn Disease / genetics
  • Fluorescein Angiography
  • Humans
  • Integrin beta3 / genetics*
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Optic Neuropathy, Ischemic / complications*
  • Optic Neuropathy, Ischemic / diagnosis
  • Optic Neuropathy, Ischemic / genetics
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Integrin beta3
  • Methylenetetrahydrofolate Reductase (NADPH2)