Optic nerve hypoplasia in a patient with a de novo KIF1A heterozygous mutation

Can J Ophthalmol. 2017 Oct;52(5):e169-e171. doi: 10.1016/j.jcjo.2017.02.021. Epub 2017 May 3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Atrophy / genetics
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology*
  • Exome / genetics
  • Eye Abnormalities / diagnostic imaging
  • Eye Abnormalities / genetics*
  • Heterozygote
  • Humans
  • Infant
  • Kinesins / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Mutation, Missense*
  • Optic Nerve / abnormalities*

Substances

  • KIF1A protein, human
  • Kinesins