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Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic
Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndro...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426083/ https://www.ncbi.nlm.nih.gov/pubmed/35791167 http://dx.doi.org/10.4103/ijo.IJO_3109_21 |
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author | Gupta, Himika Kandalkar, Bhuvaneshwari |
author_facet | Gupta, Himika Kandalkar, Bhuvaneshwari |
author_sort | Gupta, Himika |
collection | PubMed |
description | Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndrome, a rare NF1 variant. Two presented with leukocoria and were referred to as retinoblastoma suspects. Histopathology showed ganglioneuroma, a benign choroidal tumor, associated with NF-1, which does not need treatment. Knowledge of this rare condition avoids misdiagnosis of retinoblastoma, prevents aggressive management, and the associated psychological impact. |
format | Online Article Text |
id | pubmed-9426083 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-94260832022-08-31 Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic Gupta, Himika Kandalkar, Bhuvaneshwari Indian J Ophthalmol Case Series Neurofibromtosis-1 (NF-1) is the commonest oculo-neuro-cutaneous syndrome with multiple ocular manifestations. Reporting three children who presented with unilateral glaucoma (buphthalmos), ipsilateral facial hemihypertrophy, and eyelid plexiform neurofibroma: completing the triad of François syndrome, a rare NF1 variant. Two presented with leukocoria and were referred to as retinoblastoma suspects. Histopathology showed ganglioneuroma, a benign choroidal tumor, associated with NF-1, which does not need treatment. Knowledge of this rare condition avoids misdiagnosis of retinoblastoma, prevents aggressive management, and the associated psychological impact. Wolters Kluwer - Medknow 2022-07 2022-06-30 /pmc/articles/PMC9426083/ /pubmed/35791167 http://dx.doi.org/10.4103/ijo.IJO_3109_21 Text en Copyright: © 2022 Indian Journal of Ophthalmology https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Series Gupta, Himika Kandalkar, Bhuvaneshwari Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic |
title | Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic |
title_full | Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic |
title_fullStr | Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic |
title_full_unstemmed | Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic |
title_short | Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic |
title_sort | choroidal ganglioneuromas in francois variant neurofibromatosis-1: a rare retinoblastoma mimic |
topic | Case Series |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9426083/ https://www.ncbi.nlm.nih.gov/pubmed/35791167 http://dx.doi.org/10.4103/ijo.IJO_3109_21 |
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