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Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1

We present a case of a 3-year-old girl with a positive family history of neurofibromatosis type-1 (NF1) presented with best corrected visual acuity of 20/40 in the right eye and <20/400 in the left eye. External ocular examination revealed left eye proptosis of 3 mm, grade II left relative affere...

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Autores principales: Gupta, Vasudha, Sabri, Kourosh, Whelan, Kaitlyn F., Viscardi, Virginia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302466/
https://www.ncbi.nlm.nih.gov/pubmed/25624686
http://dx.doi.org/10.4103/0974-9233.148361
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author Gupta, Vasudha
Sabri, Kourosh
Whelan, Kaitlyn F.
Viscardi, Virginia
author_facet Gupta, Vasudha
Sabri, Kourosh
Whelan, Kaitlyn F.
Viscardi, Virginia
author_sort Gupta, Vasudha
collection PubMed
description We present a case of a 3-year-old girl with a positive family history of neurofibromatosis type-1 (NF1) presented with best corrected visual acuity of 20/40 in the right eye and <20/400 in the left eye. External ocular examination revealed left eye proptosis of 3 mm, grade II left relative afferent pupillary defect and full range of ocular motility with no strabismus. Slit lamp examination revealed iris lisch nodules bilaterally. Dilated fundus examination of the right eye was normal. Left eye disclosed a large mass extending from the optic nerve head, with associated subretinal fluid. There was neovascularization at the optic disc as well as a superior retinal hemorrhage. Computed tomography of brain/orbits showed an enlarged left optic nerve with a large mass at the optic nerve head, with no evidence of calcification. In addition, a large left optic pathway glioma (OPG), multiple hamartomas within the brain and a smaller low-grade right OPG was also reported. The remarkable feature of our case is the rare intraocular optic nerve involvement of the OPG. Early and regular ophthalmological assessment of all NF1 suspect/confirmed cases is of paramount importance in order to detect OPG early, resulting in timely intervention and salvage of vision.
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spelling pubmed-43024662015-01-26 Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1 Gupta, Vasudha Sabri, Kourosh Whelan, Kaitlyn F. Viscardi, Virginia Middle East Afr J Ophthalmol Case Report We present a case of a 3-year-old girl with a positive family history of neurofibromatosis type-1 (NF1) presented with best corrected visual acuity of 20/40 in the right eye and <20/400 in the left eye. External ocular examination revealed left eye proptosis of 3 mm, grade II left relative afferent pupillary defect and full range of ocular motility with no strabismus. Slit lamp examination revealed iris lisch nodules bilaterally. Dilated fundus examination of the right eye was normal. Left eye disclosed a large mass extending from the optic nerve head, with associated subretinal fluid. There was neovascularization at the optic disc as well as a superior retinal hemorrhage. Computed tomography of brain/orbits showed an enlarged left optic nerve with a large mass at the optic nerve head, with no evidence of calcification. In addition, a large left optic pathway glioma (OPG), multiple hamartomas within the brain and a smaller low-grade right OPG was also reported. The remarkable feature of our case is the rare intraocular optic nerve involvement of the OPG. Early and regular ophthalmological assessment of all NF1 suspect/confirmed cases is of paramount importance in order to detect OPG early, resulting in timely intervention and salvage of vision. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4302466/ /pubmed/25624686 http://dx.doi.org/10.4103/0974-9233.148361 Text en Copyright: © Middle East African Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Gupta, Vasudha
Sabri, Kourosh
Whelan, Kaitlyn F.
Viscardi, Virginia
Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1
title Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1
title_full Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1
title_fullStr Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1
title_full_unstemmed Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1
title_short Rare Case of Optic Pathway Glioma with Extensive Intra-Ocular Involvement in a Child with Neurofibromatosis Type 1
title_sort rare case of optic pathway glioma with extensive intra-ocular involvement in a child with neurofibromatosis type 1
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302466/
https://www.ncbi.nlm.nih.gov/pubmed/25624686
http://dx.doi.org/10.4103/0974-9233.148361
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