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

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.

Unilateral chronic angle-closure glaucoma in a pediatric patient with neurofibromatosis: a case report

“…Thus, early diagnosis and treatment can effectively reduce the damage to the optic nerve. Although glaucoma is rarely associated with NF1 2 , 4 – 14 ( Table 1 ), it may be the earliest clinical sign in some patients with NF1. 2 , 14 …”