Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic

• Published in: Indian journal of ophthalmology Vol. 70; no. 7; pp. 2602 - 2604
• Main Authors: Gupta, Himika, Kandalkar, Bhuvaneshwari
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer India Pvt. Ltd 01-07-2022; Medknow Publications & Media Pvt. Ltd; Wolters Kluwer - Medknow; Wolters Kluwer Medknow Publications
• Subjects: buphthalmos; Cancer; Case Series; Child; Choroid - pathology; Eyelid; françois syndrome; Ganglioneuroma - complications; Ganglioneuroma - diagnosis; Ganglioneuroma - pathology; Genetic disorders; Glaucoma; Humans; Neuroblastoma; Neurofibromatosis; Neurofibromatosis 1 - complications; Neurofibromatosis 1 - diagnosis; Neurological disorders; Plexiform neurofibroma; Retina; Retinal Neoplasms - complications; Retinal Neoplasms - diagnosis; Retinoblastoma; Retinoblastoma - complications; retinoblastoma mimic; Tumors; François syndrome; retinoblastoma mimic; Buphthalmos; neurofibromatosis
• ISSN: 0301-4738; 1998-3689; 1998-3689
• DOI: 10.4103/ijo.IJO_3109_21

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.