Ocular Manifestations of Chronic Granulomatous Disease: First Report of Coats' Disease and Literature Review

J Clin Immunol. 2020 Aug;40(6):940-947. doi: 10.1007/s10875-020-00810-w. Epub 2020 Jul 7.
No abstract available

Keywords: CGD; Coats’ disease; eye; granulomatous; immunodeficiency; ocular.

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Biopsy
  • Child
  • Diagnosis, Differential
  • Female
  • Granulomatous Disease, Chronic / complications*
  • Granulomatous Disease, Chronic / diagnosis*
  • Granulomatous Disease, Chronic / etiology
  • Humans
  • Immunohistochemistry
  • Male
  • Mutation
  • NADPH Oxidases / genetics
  • Phenotype*
  • Radiography, Thoracic
  • Retinal Telangiectasis / diagnosis*
  • Retinal Telangiectasis / etiology*
  • Symptom Assessment
  • Tomography, X-Ray Computed

Substances

  • NADPH Oxidases
  • neutrophil cytosolic factor 1