Retinoblastoma with cataract and ectopia lentis

A 13-month-old infant girl presented to the pediatric ophthalmology service on referral from her pediatrician for evaluation of a 2-day history of right periorbital edema. Her parents also noted that she had been lethargic with nausea and vomiting. They did not report any other symptoms and denied any trauma. Past medical history was unremarkable. Of significance, she had a normal ophthalmic examination at age 6 weeks, at which time she had presented for evaluation of possible visual impairment. At that time she was able to track distances of 6 to 12 inches; the intraocular examination, including cyclopegic indirect ophthalmoscopy, was within normal limits; and there was no evidence of structural abnormalities. The family history was also unremarkable. The examination was significant for moderate right periorbital edema. The anterior segment examination showed marked conjunctival injection, corneal edema, neovascularization of the iris, shallow anterior chamber, and a dense cataract. Ectopia lentis was not noted at that time, but the corneal edema and a poorly dilated pupil precluded a view of zonular integrity. Intraocular pressure measured 85 mm Hg using a tonopen (Medtronic, Jacksonville, FL). The left eye was found to be normal. B-scan ultrasonography of the right eye showed a large mass of medium to high reflectivity occupying approximately 80% of the vitreous cavity volume with a stalk of the mass attached to the retina. Also noted were multiple smaller masses in the vitreous cavity and choroidal effusion. Computed axial tomography (CAT) of the orbits and head showed an enlarged, calcified, slightly enhancing mass in the right orbit as well as a dislocated lens (Figure 1). Magnetic resonance imaging (MRI) showed no evidence of intracranial extension. Per these findings retinoblastoma was diagnosed, and the patient was taken to the operating room. Examination with the patient under anesthesia showed no evidence of intraocular tumor in the left eye, and the right eye was enucleated. Gross pathological evaluation documented an intact globe with a dislocated, cataractous lens. Histopathologic sections displayed viable tumor cells in the anterior chamber with iris neovascularization, and although no zonules were seen, vitreous fibrils were noted between the anterior edge of the tumor and the posterior iris surface (Figure 2). The uveal tract was free of tumor. The lens was subluxated toward the tumor (Figure 3), and there was loss of normal cortical architecture with globular liquefaction of lens fibers (Figure 4). Total detachment of the retina was present, and a large cellular mass filled the posterior segment. The mass consisted of small round cells with hyperchromatic nuclei, areas of calcification, and small areas of Flexner-Wintersteiner rosettes. The optic nerve head was noted to have tumor cells at the posterior From the Department of Ophthalmology, University of Kentucky, Lexington, KY. Submitted August 16, 2002. Revision accepted July 16, 2003. *Reprint requests: S. Jafar Hasan, MD, Department of Ophthalmology, University of Kentucky, E-302 Kentucky Clinic, Lexington, KY 40536-0284. J AAPOS 2003;7:425-7. Copyright © 2003 by the American Association for Pediatric Ophthalmology and Strabismus. 1091-8531/2003/$35.00 0 doi:10.1016/j.jaapos.2003.07.005 FIG 1. Computed axial tomography scan shows the dislocated lens and vitreous mass.