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Research Letters | Oct 2012

Retinal Glioneuronal Hamartoma in Neurofibromatosis Type 1

Eleonora M. Lad, MD, PhD; Jason R. Karamchandani, MD; Deborah M. Alcorn, MD; Darius M. Moshfeghi, MD; Peter R. Egbert, MD

Arch Ophthalmol. 2012;130(10):1335-1337. doi:10.1001/archophthalmol.2012.2250.

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Retinal tumors occasionally arise in patients with neurofibromatosis type 1 (NF1). There have been reports of astrocytic hamartomas, capillary hemangiomas, and combined hamartomas of the retina and retinal pigment epithelium (CHRRPE)—typically without pathologic confirmation of the diagnosis.¹^- 2 We report a case of a child with NF1 with an unusual retinal tumor, a glioneuronal hamartoma.

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Figure 1. Right eye of the patient. A, Fundus photograph of the right eye (Retcam, 130° view; Clarity Medical Systems) demonstrates a hamartomatous lesion inducing tractional retinal detachment along the inferotemporal arcade with concurrent inferotemporal branch retinal vein occlusion and preretinal hemorrhage. B, Whole eye with diffusely thickened uvea and complete retinal detachment.

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Figure 2. Histologic findings in the right eye. A, Whole eye with detached retina, large retinal cyst (asterisk), and severely contracted iris with peripheral anterior synechiae (arrows) (hematoxylin-eosin, original magnification ×15). B, Retina (hematoxylin-eosin, original magnification ×40). C, Retinal tumor (hematoxylin-eosin, original magnification ×400). D, Retinal tumor, showing the retinal surface (black arrow) and neuronal cells beneath the inner nuclear layer (white arrows) (hematoxylin-eosin, original magnification ×400). E, Retinal tumor (glial fibrillary acidic protein, original magnification ×400). F, Retinal tumor (CD56, original magnification ×400). G, Choroid with neurofibroma, including clusters of neurons (hematoxylin-eosin, original magnification ×400); inset, neurons with round nuclei and cytoplasmic Nissl substance (hematoxylin-eosin, original magnification ×600). H, Choroid (microtubule-associated protein 2, original magnification ×400).

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Lad EM, Karamchandani JR, Alcorn DM, Moshfeghi DM, Egbert PR. Retinal Glioneuronal Hamartoma in Neurofibromatosis Type 1. Arch Ophthalmol. 2012;130(10):1335-1337. doi:10.1001/archophthalmol.2012.2250.

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