Ocular Juvenile Xanthogranuloma With BRAF V600E Mutation in a Child

J Pediatr Ophthalmol Strabismus. 2021 Jul-Aug;58(4):e19-e21. doi: 10.3928/01913913-20210416-01. Epub 2021 Jul 1.

Abstract

The authors present a case of bilateral painless progressive proptosis. A diagnosis of ocular juvenile xanthogranuloma was made based on clinical manifestations, histopathology, and immunohistochemistrical staining. Genetic testing discovered the BRAF V600E mutation. This patient did not respond to standard chemotherapy; however, he demonstrated regression after anti-BRAF targeted therapy. [J Pediatr Ophthalmol Strabismus. 2021;58(4):e19-e21.].

Publication types

  • Case Reports

MeSH terms

  • Child
  • Eye
  • Humans
  • Male
  • Mutation
  • Proto-Oncogene Proteins B-raf* / genetics
  • Xanthogranuloma, Juvenile* / diagnosis
  • Xanthogranuloma, Juvenile* / genetics

Substances

  • BRAF protein, human
  • Proto-Oncogene Proteins B-raf