Acta Ophthalmologica Scandinavica 2007

Diagnosis Therapy in Ophthalmology

Uveitis masquerade syndromes: diffuse retinoblastoma in an older child

Charlotta All-Ericsson, Mario A. Economou, Irene Landau, Frank Tra isk and Stefan Seregard
St Eriks Eye Hospital, Stockholm, Sweden

Acta Ophthalmol. Scand. 2007: 85: 569570

Copyright Acta Ophthalmol Scand 2006.

doi: 10.1111/j.1600-0420.2006.00818.x

10-year-old boy presented at the casualty department with headache and apparent ashes of light and impaired vision in the right eye. He had no history of ocular trauma and no family history of ocular neoplastic disease. Best corrected visual acuity was 20 25 and 20 15 in the right and left eyes, respectively. Intraocular pressure was 50 mmHg and 18 mmHg in the right and left eyes, respectively. Slit-lamp examination revealed some ne precipitates on the corneal endothelium, with 3+ cells, 2+ are in the anterior chamber and early rubeosis iridis. Numerous white granular deposits were present on the iris surface (Fig. 1A). Fundus examination after pupil dilatation showed clumps of vitreous seeds in the anterior peripheral vitreous (Fig. 1B) and optic disc asymmetry with cup : disc ratios of 0.7 and 0.3 in the right and left eyes, respectively. There was no distinct retinal mass, although diffuse vitreous debris made any detailed visualization of the retina difcult. Uveitis, lymphoma, sarcoidosis and leukaemia were considered as differential diagnoses and the patient was referred to the paediatric emergency unit for an orbital computed tomography (CT) scan (Fig. 1C), chest X-ray and full blood count. The results of these examinations were all negative. The following day, the patient was referred for examination at the ocular oncology service. The clinical features

were similar to those presented the previous day. Right eye ultrasonography revealed an inferior retinal detachment without evidence of a distinct retinal mass or calcications (Fig. 1D). Diffuse retinoblastoma was strongly suspected and enucleation was performed after parental consent had been obtained. Gross examination of the enucleated eye showed anterior vitreous clumps, zonular inltration of the retinoblastoma, retinal thickening and retinal detachment (Fig. 1E). Microscopically, viable and necrotic retinoblastoma cells were seen on the iris and cilary body surface. Tumour cells had severely inltrated the iris and ciliary body stroma, as well as the chamber angle (Fig. 1F). The anterior retina was thickened and featured signicant intraretinal tumour growth, but most of the inner surface was covered by retinal ganglion cells that were atrophic but otherwise appeared normal. The postequatorial retina was normal. The vitreous contained abundant necrotic debris, but also conspicuous tumour seeds with a necrotic core enveloped by a cortex of viable retinoblastoma cells. There were no signs of optic nerve involvement, choroidal invasion or extraocular extension. Staging for extraocular disease included CT imaging of the abdomen and thorax. The brain and spinal cord were studied by magnetic resonance imaging. Bone marrow and cerebrospinal uid were sampled for

cytological examination. There were no signs of extraocular disease. Because of the extensive involvement of the iris, ciliary body and chamber angle, adjunctive systemic chemotherapy was administered with four cycles of intravenous vincristine (1.5 mg m2), carboplatin (560 mg m2) and etoposide (150 mg m2). The subject was healthy and showed no signs of metastasis at follow-up 10 months later. Although retinoblastoma is the most common paediatric intraocular malignancy, diffuse type retinoblastoma occurs in only 12% of children with retinoblastoma (Materin et al. 2000). The term was introduced by Ashton in 1958 to describe a subtype of retinoblastoma characterized by a diffuse inltration of the retina by tumour cells (Schoeld 1960). Diffuse inltrating retinoblastoma is frequently confused clinically with uveitis and endophthalmitis, which often results in delayed diagnosis (Foster & Mukai 1996). In the case presented here, retinoblastoma was not on the initial list of potential diagnoses and, rather than being given a more detailed eye examination, the patient was rushed to the paediatric department for further systemic investigations. The growth pattern frequently results in clinical misdiagnosis, as there is often no apparent retinal mass and the presence of vitreous and anterior chamber seeding may mimic ocular

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(A)

(B)

for diagnosis. Because extraocular spread can be fatal, all intraocular biopsy and vitrectomy are usually contraindicated until the possibility of retinoblastoma has been excluded. Patients with diffuse type retinoblastoma are typically diagnosed at between 5 and 12 years of age (Shields & Shields 1992), with a mean age at diagnosis of 6.1 years (Bhatnagar & Vine 1991). In cases such as this, the absence of pain, conjunctival hyperaemia, synechia and cataract should alert the clinician to suspect retinoblastoma rather than ocular inammation. The possibility of retinoblastoma should be entertained whenever there is an unusual presentation in a child and especially if the symptoms do not respond to the usual therapy.

References
(C) (D)
Bhatnagar R & Vine AK (1991): Diffuse inltrating retinoblastoma. Ophthalmology 98: 16571661. Foster BS & Mukai S (1996): Intraocular retinoblastoma presenting as ocular and orbital inammation. Int Ophthalmol Clin 36 (1): 153160. Materin MA, Shields CL, Shields JA & Eagle RC Jr (2000): Diffuse inltrating retinoblastoma simulating uveitis in a 7-year-old boy. Arch Ophthalmol 118: 442443. Schoeld PB (1960): Diffuse inltrating retinoblastoma. Br J Ophthalmol 44: 3541. Shields JA & Shields CL (1992): Retinoblastoma: clinical and pathological features. In: Shields JA & Shields CL (eds). Intraocular Tumours: a Text and Atlas. Philadelphia: WB Saunders 305332.

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(F)

Fig. 1. (A) Multiple white deposits covering parts of the iris surface in the right eye. (B) Fundus image showing diffuse white opacities in the lower temporal vitreous. (C) Normal computed tomography scan. (D) Ultrasonography showing diffuse multiple echoes in the anterior vitreous but no evidence of calcication. (E) Photograph of enucleated right eye showing a diffuse mass in the temporal pars plana region and zonular opacication. (F) Microphotograph (van Gieson stain for collagen) showing extensive invasion of retinoblastoma cells into the iris stroma and trabecular meshwork.

Received on July 2nd, 2006. Accepted on August 28th, 2006. Correspondence: Charlotta All-Ericsson MD, PhD Retina and Oncology Service St Eriks Eye Hospital Polhemsgatan 50 SE-112 52 Stockholm Sweden Email: charlotta.ericsson@sankterik.se

inammation. In such cases, the differential diagnosis should include retinoblastoma, toxocara retinitis, occult retinal foreign body, bacterial endophthalmitis, intermediate uveitis, and

other inammatory and infectious disorders. Diffuse inltrating retinoblastoma has a relatively low incidence of calcication, which makes ultrasonography and CT imaging less reliable

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