Ocular Manifestations of PNPT1-Related Neuropathy

J Neuroophthalmol. 2021 Sep 1;41(3):e293-e296. doi: 10.1097/WNO.0000000000001012.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA / genetics*
  • DNA Mutational Analysis
  • Exoribonucleases / genetics*
  • Exoribonucleases / metabolism
  • Female
  • Fovea Centralis / diagnostic imaging
  • Humans
  • Male
  • Mutation*
  • Optic Atrophy, Hereditary, Leber / diagnosis
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Optic Atrophy, Hereditary, Leber / metabolism
  • Optic Nerve / diagnostic imaging
  • Pedigree
  • Tomography, Optical Coherence / methods
  • Visual Fields / physiology

Substances

  • DNA
  • Exoribonucleases
  • PNPT1 protein, human