PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans-Like Nystagmus

J Neuroophthalmol. 2023 Dec 1;43(4):e316-e318. doi: 10.1097/WNO.0000000000001582. Epub 2022 Mar 24.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Infant
  • Nystagmus, Pathologic* / diagnosis
  • Nystagmus, Pathologic* / etiology
  • Optic Atrophy* / diagnosis
  • Protein Tyrosine Phosphatases, Non-Receptor
  • Spasms, Infantile*

Substances

  • Protein Tyrosine Phosphatases, Non-Receptor
  • PTPN23 protein, human