A 7-YEAR-OLD boy developed redness and decreased vision in the left eye during a 4-week period. Findings from an ophthalmic examination conducted elsewhere revealed signs consistent with atypical uveitis or endophthalmitis, and vitrectomy was planned. A second opinion was obtained from our service. There was no family history of retinoblastoma. His visual acuity was 6/6 OD and 6/7.5 OS, and intraocular pressures were within reference ranges. Pertinent findings were limited to the left eye, which showed diffuse mild conjunctival hyperemia. The anterior chamber contained moderate cells with 1 mm of white material in the inferior part of the anterior chamber (Figure 1). White deposits were present on the corneal endothelium, iris surface, and anterior vitreous. Figure 1. View LargeDownload Pseudohypopyon of retinoblastoma in the anterior chamber. The eye has mild hyperemia. Ophthalmoscopically, there was diffuse gray-white opacification and thickening of the retina that spared the fovea (Figure 2) but no distinct retinal mass. Clumps of white vitreous seeds were present. The optic disc was edematous. Findings from ultrasonography revealed no retinal mass, but the retina was diffusely and irregularly thickened to approximately 2 mm with normal appearance of the optic nerve. A clinical diagnosis of diffuse unilateral sporadic retinoblastoma was made, and enucleation was performed.1-3 Figure 2. View LargeDownload Infiltrating retinoblastoma diffusely thickens and opacifies the posterior retina and optic disc but spares the macula. Macroscopically, clumps of white tumor tissue were observed inferiorly in the anterior chamber and anterior vitreous (Figure 3). Similar white material covered the surface of the ciliary body, and the retina was diffusely thickened without focal tumefaction (Figure 4). Microscopically, viable and necrotic retinoblastoma cells were seen on the corneal endothelium, iris, ciliary processes, and pars plana. Posteriorly, the optic disc and retina were diffusely thickened by a tumor that tended to form perivascular sleeves around the retinal vessels (Figure 5). Flexner-Wintersteiner rosettes were present. Tumor cells extended 11 mm into the optic nerve to the line of surgical transection (Figure 6). Minor invasion of the juxtapapillary choroid was noted. He was treated with orbital radiotherapy and systemic chemotherapy for extensive optic nerve invasion by retinoblastoma. He was healthy and without metastasis at follow-up 36 months later. Figure 3. View LargeDownload Macrophotograph of enucleated eye. Most of the retina in the calotte is diffusely thickened and opacified by diffuse infiltrating retinoblastoma. The tumor covers the pars plana and has seeded the angle. Figure 4. View LargeDownload Characteristic annular pattern of zonular infiltration by retinoblastoma. A small nodular area of peripheral retinal tumor abuts the ora serrata. Figure 5. View LargeDownload Sheets and cords of tumor cells thicken the optic disc and posterior retina and infiltrate the juxtapapillary choroid. Subtle invasion of the retrolaminar optic nerve is not evident at this magnification (hematoxylin-eosin, original magnification ×5). Figure 6. View LargeDownload Cuffs of infiltrating retinoblastoma cells surround small vessels in posterior retina. Retroretinal plaque of the tumor contains Flexner-Wintersteiner rosettes (hematoxylin-eosin, original magnification ×100). Comment Diffuse infiltrating retinoblastoma occurs in only 1% to 2% of all cases of retinoblastoma.1-3 It generally is a unilateral sporadic tumor diagnosed in older children who have no family history of retinoblastoma. Diffuse infiltrating retinoblastoma is often confused clinically with uveitis or endophthalmitis because it is seen with pseudoinflammatory signs such as vitreous and anterior-segment seeding with pseudohypopyon formation.4 Owing to the relatively low incidence of calcification and the lack of a well-defined tumorous mass in this variant of retinoblastoma, findings from computed tomography and magnetic resonance imaging are of less diagnostic value. Vitrectomy should be avoided in children thought to have ocular inflammation until the diagnosis of retinoblastoma is excluded. Retrolaminar optic nerve invasion by diffuse retinoblastoma is also uncommon. A review of 28 published cases revealed 2 patients with retrolaminar optic nerve invasion.5 Risk factors for optic nerve invasion by retinoblastoma include a nodular tumor greater than 15 mm in maximal dimension, exophytic growth pattern, and secondary glaucoma.6 None of these features were present in our patient. This case demonstrates that diffuse retinoblastoma can also be invasive and infiltrate the optic nerve. This tumor's unusual infiltrative growth pattern around the vessels and along tissue planes may have contributed to optic nerve invasion. In such cases, systemic chemotherapy and orbital radiotherapy may be used to prevent metastasis. In summary, diffuse infiltrating retinoblastoma can masquerade as intraocular infection or inflammation in a child. The absence of pain, conjunctival hyperemia, synechia, cataract, and vitreous fibrosis should alert the clinician to suspect retinoblastoma rather than inflammation. Support for this study was provided by Consultores Oftalmologicos, Buenos Aires, Argentina (Dr Materin); the Eye Tumor Research Foundation, Philadelphia, Pa; the Macula Foundation, New York, NY (Dr C. Shields); the Paul Kayser International Award of Merit in Retina Research, Houston, Tex (Dr J. Shields); and the Noel T. and Sara L. Simmonds Endowment for Ophthalmic Pathology, Wills Eye Hospital, Philadelphia (Dr Eagle). Corresponding author: Carol L. Shields, MD, Oncology Service, Wills Eye Hospital, 900 Walnut St, Philadelphia, PA 19107. References 1. Shields JAShields CL Intraocular Tumors: A Text and Atlas. Philadelphia, Pa WB Saunders Co1992;305- 391 2. Shields JAShields CL Atlas of Intraocular Tumors. Philadelphia, Pa Lippincott Williams & Wilkins1999;207- 233 3. Shields JAShields CLEagle RCBlair CJ Spontaneous pseudohypopyon secondary to diffuse infiltrating retinoblastoma. Arch Ophthalmol. 1988;1061301- 1302Google ScholarCrossref 4. Foster BSMukai S Intraocular retinoblastoma presenting as ocular and orbital inflammation. Int Ophthalmol Clin. 1996;36153- 160Google ScholarCrossref 5. Bhatnagar RVine AK Diffuse infiltrating retinoblastoma. Ophthalmology. 1991;981657- 1661Google ScholarCrossref 6. Shields CLShields JABaez K et al. Optic nerve invasion of retinoblastoma. Cancer. 1994;73692- 698Google ScholarCrossref
Archives of Ophthalmology – American Medical Association
Published: Mar 1, 2000
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