Choroidal ganglioneuroma in neurofibromatosis

Abstract

A twenty-one year old female with previously unsuspected neurofibromatosis presented for evaluation of a blind painful eye. Histopathologic examination of the enucleated specimen revealed choroidal thickening with ovoid bodies and proliferation of connective tissue with pigment-containing cells and ganglion-like cells. Electron microscopic study of the latter cell population revealed typical morphologic features of ganglion cells, including numerous electron-dense intracellular granules and an abundance of mitochondria and rough endoplasmic reticulum. These pathologic findings were interpreted as consistent with the diagnosis of choroidal ganglioneuroma occurring in the context of ocular neurofibromatosis. The literature concerning this unusual tumor is reviewed and the possible relationship of this lesion to neurofibromatosis and other disorders of neural cresent proliferation are briefly discussed.

Choroidal ganglioneuroma in a patient with neurofibromatosis type 1: a case report

“…3 Choridal ganglioneuroma in NF-1 is very rare, with MEDLINE search revealing only one published case report. 2 In this patient also, enucleation for a painful blind eye revealed an unsuspected choroidal ganglioneuroma.…”

“…1 Choroidal ganglioneuroma is extremely rare. 2 Herein, we report a patient with neurofibromatosis type 1 (NF-1) who underwent evisceration for a painful blind eye, subsequent histopathological examination (HPE) revealing a clinically unsuspected choroidal ganglioneuroma.…”

Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1

“…1 A minimum of 2 of the following criteria are required for the diagnosis: 6 or more café au lait spots, axillary or inguinal freckling, 2 or more cutaneous neurofibromas, 1 plexiform neurofibroma, distinctive osseous lesions (e.g., pseudarthrosis, sphenoid wing hypoplasia), optic glioma, 2 or more iris Lisch nodules, and a first-degree relative with NF1. 2 Choroidal neurofibromatosis, as described in postmortem examinations, [3][4][5][6][7][8] is characterized by ovoid bodies consisting of proliferating neoplastic Schwann cells that are arranged in concentric rings around axons. There are only a few reports of choroidal abnormalities in clinical studies.…”

Unsuspected Ganglioneuroma of the Choroid Diagnosed after Enucleation

“…Reports on choroidal GN with NF1 have been scarce in the literature, with a PubMed search retrieving only 6 published case reports [5,6,7,8,9,10]. In all cases, the GN was not suspected clinically.…”