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Abstract #104537 Published in IGR 23-2
Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic
Gupta H; Kandalkar BIndian Journal of Ophthalmology 2022; 70: 2602-2604
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.
Department of Pediatric Ophthalmology and Pediatric Pathology, SRCC Children's Hospital Managed by NH- Mumbai, Maharashtra, India.
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