Ocular manifestations of hypoxia-inducible factor-2α paraganglioma-somatostatinoma-polycythemia syndrome

Ophthalmology. 2014 Nov;121(11):2291-3. doi: 10.1016/j.ophtha.2014.06.019. Epub 2014 Aug 8.
No abstract available

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Abdominal Neoplasms / genetics
  • Abdominal Neoplasms / pathology*
  • Adolescent
  • Adult
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Child
  • DNA Mutational Analysis
  • Erythropoietin / blood
  • Exudates and Transudates
  • Female
  • Fibrosis
  • Fluorescein Angiography
  • Humans
  • Male
  • Optic Disk / pathology*
  • Pancreatic Neoplasms / genetics
  • Pancreatic Neoplasms / pathology
  • Paraganglioma / genetics
  • Paraganglioma / pathology*
  • Polycythemia / genetics
  • Polycythemia / pathology*
  • Retinal Neovascularization / diagnosis*
  • Retinal Neovascularization / genetics
  • Somatostatinoma / genetics
  • Somatostatinoma / pathology*

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • EPO protein, human
  • Erythropoietin
  • endothelial PAS domain-containing protein 1