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Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
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 f...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374193/ https://www.ncbi.nlm.nih.gov/pubmed/32715158 http://dx.doi.org/10.1016/j.ajoc.2020.100827 |
Sumario: | 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)-2 [Formula: see text]. |
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