Open AccessChoroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic
Author(s) -
Himika Gupta,
Bhuvaneshwari Kandalkar
Publication year - 2022
Publication title -
indian journal of ophthalmology/indian journal of ophthalmology
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 51
eISSN - 1998-3689
pISSN - 0301-4738
DOI - 10.4103/ijo.ijo_3109_21
Subject(s) - medicine , retinoblastoma , plexiform neurofibroma , neurofibromatosis , histopathology , ganglioneuroblastoma , dermatology , glaucoma , eyelid , ganglioneuroma , ophthalmology , pathology , neurofibroma , neuroblastoma , biochemistry , chemistry , genetics , biology , gene , cell culture
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.