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J. Tordilla–Wadia, G. Bradford, J. Sivak, A.Y. Lin, R. Folberg; Clinico–Pathologic Correlation of Congenital Choristomatous Malformation of the Optic Nerve With Coloboma Mimicking a Neoplasm . Invest. Ophthalmol. Vis. Sci. 2005;46(13):3367.
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Purpose:To describe novel findings in an eye with congenital choristomatous malformation with coloboma of the optic nerve. Methods:Clinico–pathological correlation. Results: A 19–day–old boy, with a normal right eye, presented with a left decreased red reflex and "morning glory" optic disc. Eight months later, at the time of uncomplicated strabismus surgery for intermittent esotropia, the fundus appearance was changed. There was an optic disc mass and several small, white vitreous opacities overlying the posterior pole. B–scan ultrasonography showed a noncalcified mass extending from the optic nerve. Orbital CT–scan demonstrated a 7 millimeter, fusiform, noncalcified, inhomogeneous, mildly enhancing, retrobulbar optic nerve mass extending through the posterior globe. The eye became blind, painful, and red, and developed corneal opacification, vitreous hemorrhage, and retinal detachment. At 18 months of age, the patient underwent lateral orbitotomy for enucleation and optic nerve resection. Pathologic findings revealed choristomatous malformation (including intraneural adipose tissue and smooth muscle) with coloboma of the optic nerve. Conclusions: The differential diagnosis of childhood optic nerve masses includes benign and malignant neoplasms (glioma and retinoblastoma) and malformations (persistent hyperplastic primary vitreous). Optic nerve choristoma is rare and usually manifests as optic atrophy. Our case is unusual in that growth with vitreous seeding caused inflammation, vitreous hemorrhage, and retinal detachment leading to painful blindness. These novel findings place choristomatous optic nerve malformation with coloboma in the differential diagnosis of enlarging childhood optic nerve masses.
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