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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...

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Autores principales: Onishi, Alex C., Jampol, Lee M., Fawzi, Amani A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
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
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author Onishi, Alex C.
Jampol, Lee M.
Fawzi, Amani A.
author_facet Onishi, Alex C.
Jampol, Lee M.
Fawzi, Amani A.
author_sort Onishi, Alex C.
collection PubMed
description 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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spelling pubmed-73741932020-07-23 Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy Onishi, Alex C. Jampol, Lee M. Fawzi, Amani A. Am J Ophthalmol Case Rep Case Report 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]. Elsevier 2020-07-10 /pmc/articles/PMC7374193/ /pubmed/32715158 http://dx.doi.org/10.1016/j.ajoc.2020.100827 Text en © 2020 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Onishi, Alex C.
Jampol, Lee M.
Fawzi, Amani A.
Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
title Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
title_full Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
title_fullStr Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
title_full_unstemmed Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
title_short Optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
title_sort optic nerve head reactive retinal astrocytic tumor treated with photodynamic therapy
topic Case Report
url 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
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