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Clinicopathologic Reports, Case Reports, and Small Case Series
January 2003

An Unusual Case of Leukocoria: Heterotopic Brain Arising From the Retina

Arch Ophthalmol. 2003;121(1):119. doi:10.1001/archopht.121.1.119

A newborn infant was seen who had leukocoria, total retinal detachment, and a noncalcified mass in the posterior retina. Retinoblastoma was considered a possibility, and enucleation was performed. Pathologic examination findings revealed heterotopic brain tissue arising from the retina to lead us to conclude that posterior segment heterotopic brain tissue is a rare choristomatous lesion that can present as leukocoria.

An 8-day-old white male was noted to have leukocoria in the right eye on routine examination at his pediatrician's office. He was referred immediately for ophthalmologic examination. There was no family history of retinoblastoma or childhood eye disease.

On examination, the right eye minimally responded to light. The left eye responded normally to light with a brisk blinking reflex. A right afferent pupillary defect was present. Slitlamp examination of the right eye revealed a thick retrolental white plaque (Figure 1). The horizontal corneal diameter OD was 9.5 mm in comparison with 10 mm OS. The lens in the right eye was subluxated anteriorly and superotemporally. Fundus examination of this eye revealed a funnel-shaped retinal detachment with a fibrous membrane spanning the anterior part of the funnel just posterior to the lens. A large chalky white mass was visible through the retrolental plaque in the temporal aspect of the eye. This mass appeared to be breaking through the retina in several places. Two-dimensional ultrasound of the right eye demonstrated a total retinal detachment with a posterior noncalcified subretinal mass and a posterior colobomatous defect. The left eye was normal.