Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic
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Date
2022-07
Journal Title
Journal ISSN
Volume Title
Publisher
All India Ophthalmological Society
Abstract
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.
Description
Keywords
Buphthalmos, François syndrome, neurofibromatosis, retinoblastoma mimic
Citation
Gupta Himika, Kandalkar Bhuvaneshwari. Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic. Indian Journal of Ophthalmology. 2022 Jul; 70(7): 2602-2605