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

弗朗索瓦变异型神经纤维瘤病-1中的脉络膜神经节瘤:一种罕见的视网膜母细胞瘤模拟疾病

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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.

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