Vascular changes in the retina and choroid of patients with EPAS1 gain-of-function mutation syndrome

PM Dmitriev, H Wang, JS Rosenblum… - JAMA …, 2020 - jamanetwork.com
Importance Patients with theEPAS1gain-of-function mutation syndrome (or Pacak-Zhuang
syndrome) present with multiple paragangliomas or pheochromocytomas, duodenal
somatostatinoma, polycythemia, headaches, and sometimes diminished visual acuity at an
early age. The characteristic phenotype and known genetic cause of the syndrome provide
an opportunity to study the role of hypoxia-inducible factor 2α (HIF-2α) in oxygen sensing,
development in regions of physiologic hypoxia, and other pathological processes …