Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy

Alex C. Onishi, Lee M. Jampol, Amani A. Fawzi*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose: To describe the unusual presentation and the treatment course of a case of bilateral optic nerve head reactive retinal astrocytic tumor (RRAT). Observations: A 29 year-old woman with bilateral optic disc masses presented with declining vision refractory to anti-vascular endothelial growth factor (VEGF) injections. After total loss of vision in her left eye, diagnostic enucleation and histopathology was consistent with RRAT. Staged photodynamic therapy (PDT) treatments over a period of four months in the better seeing eye resulted in stabilization of vision, improvement in intraretinal and subretinal fluid, and shrinkage of the optic disc mass. Conclusions: In this unusual case of bilateral vision-threatening optic nerve head RRAT that were refractory to multiple therapies including anti-VEGF injections, PDT demonstrated safety and efficacy. Diagnostic work-up included whole exome sequencing (WES) that was negative for mutations in genes related to von-Hippel-Lindau (VHL), neurofibromatosis, tuberous sclerosis, and hypoxia-inducible factor (HIF)-2α.

Original languageEnglish (US)
Article number100827
JournalAmerican Journal of Ophthalmology Case Reports
Volume19
DOIs
StatePublished - Sep 2020

Keywords

  • Photodynamic therapy
  • Reactive retinal astrocytic tumor
  • Vasoproliferative retinal tumor

ASJC Scopus subject areas

  • Ophthalmology

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