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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...

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Autores principales: Gupta, Himika, Kandalkar, Bhuvaneshwari
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
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.
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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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