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Clinicopathologic Reports, Case Reports, and Small Case Series
October 2002

Multiple Anterior Chamber Cystic Lesions as the First Sign of Advanced Retinoblastoma

Arch Ophthalmol. 2002;120(10):1385-1388. doi:

Retinoblastoma (RB) is the most frequently occurring intraocular malignant tumor of childhood.13 It occurs bilaterally in 30% to 35% of cases.1,2 A few adult cases have been reported, but onset is very rare in patients older than 5 years.3 Generally, RB is seen with leukocoria or strabismus, and the anterior chamber (AC) is usually clear. In rare instances, the AC may have a pseudohypopyon. Cysts in the AC are very rare. We report the case of a 4-year-old boy with multiple anterior chamber cystic lesions as the first sign of advanced RB.

Report of a Case

A 4-year-old boy was referred by an ophthalmologist from another hospital for an emergent ophthalmic examination. The child's mother reported a history of a few hours duration of mydriasis and decreased vision in her son's right eye, in which "little white things" were present. The child had no significant natal, medical, developmental, or family history and no previous ocular trauma.

At the time of the examination, the patient's best-corrected visual acuity was counting fingers OD and 20/20 OS. His intraocular pressure was 48 mm Hg OD and 14 mm Hg OS. Mydriasis that was not induced pharmacologically was present in his right eye; extraocular movements were full, and alignment was straight. The left eye was healthy.

Slitlamp examination showed conjunctival hyperemia with papillae and scant purulent discharge. The cornea was clear. There were 4+ cells in the anterior chamber of the right eye, with 20 to 25 small (<0.5 mm), round to oval, white to translucent formations (Figure 1). These lesions moved in the AC with changes in the child's head position. Iris neovascularization with involvement of the drainage cycle also was observed. The lens was healthy. In the vitreous, 4+ cells were present. There was extensive retinal detachment with subretinal exudate and a subretinal temporal mass. The results of a general physical examination were within normal limits, and all serologic studies to detect Toxocara, Toxoplasma, Taenia solium, Taenia echinococcus, Rickettsia, Listeria, and Leishmania were negative.

Figure 1.
The anterior chamber of the right
eye (A and B) contains multiple, small, round to oval, white to translucent
formations with a cystic appearance (B, original magnification ×3).

The anterior chamber of the right eye (A and B) contains multiple, small, round to oval, white to translucent formations with a cystic appearance (B, original magnification ×3).

The child was hospitalized and treated with intravenous mannitol 20%, oral acetazolamide, and topical timolol maleate and dorzolamide hydrochloride to decrease the intraocular pressure. A mass in the right eye, imaged with both computed tomography and ultrasonography, was shown to be a unilateral intraocular calcified lesion. The diagnosis of RB was then made. To our knowledge, the association of this tumor and AC cystic lesions is unique. At this point, we decided to perform a fine-needle aspiration biopsy of the cystic lesions through the cornea to confirm the diagnosis and to rule out an associated disease (eg, parasitic disease or ciliary body medulloepithelioma). Cytologic examination of an aspiration biopsy specimen of the AC revealed atypical cells highly suggestive of RB. Surgical enucleation of the right eye was performed after no metastatic disease was found. We began treatment with 3 cycles of chemotherapy, consisting of vincristine sulfate (1.5 mg/m2), carboplatin (560 mg/m2), and etoposide (150 mg/m2 twice daily) in association with amifostine. The patient has been reexamined regularly, and 10 months postoperatively, has had no recurrence, metastasis, or development of a new tumor in the other eye.

On histopathologic examination, the AC showed iris neovascularization and a small amount of loose, brown, rounded cystlike lesions occupying the inferior third. The cystic appearance of the AC lesions was altered during fine-needle aspiration biopsy because of their considerable size. Microscopically, they were composed of small neoplastic cells with hyperchromatic nuclei, scant cytoplasm, and increased mitotic activity (Figure 2).

Figure 2.
Cytologic examination of the anterior
chamber cystic lesions after fine-needle aspiration biopsy shows groups of
neoplastic cells and red corpuscles (hematoxylin-eosin, original magnification
×100).

Cytologic examination of the anterior chamber cystic lesions after fine-needle aspiration biopsy shows groups of neoplastic cells and red corpuscles (hematoxylin-eosin, original magnification ×100).

After surgical excision, gross examination revealed that the ocular tumor was a large mass that filled most of the posterior segment of the right eye. On the cut surface, the mass was firm and grayish-white and had a myxoid appearance. There was extensive retinal detachment (Figure 3). Extense iris neovascularization and residual distorted cysts were observed in the anterior chamber.

Figure 3.
Gross examination of the enucleated
eye shows an extensive retinal detachment and a large mass filling most of
the posterior segment.

Gross examination of the enucleated eye shows an extensive retinal detachment and a large mass filling most of the posterior segment.

Microscopical features of tumor cells from the enucleated eye were identical to those observed in the cystic lesions. No typical Flexner-Wintersteiner rosettes were present (Figure 4). Immunohistochemical stains for neuron-specific enolase and S100 protein confirmed that the tumor was a neuronal neoplasm consistent with RB. There was no focus of choroidal invasion by neoplastic cells, and the optic nerve was free of tumor.

Figure 4.
High magnification of the retinal
tumor shows neoplastic cells with hyperchromatic nuclei, scant cytoplasm,
and increased mitotic activity (hematoxylin-eosin, original magnification
×250).

High magnification of the retinal tumor shows neoplastic cells with hyperchromatic nuclei, scant cytoplasm, and increased mitotic activity (hematoxylin-eosin, original magnification ×250).

Comment

The initial signs and symptoms of RB are determined by the extent of the tumor at diagnosis. Clinically, leukocoria and strabismus are the 2 most frequent clinical signs in children with typical RB. More than 50% of all RB is diagnosed following observation of leukocoria. Strabismus is the initial sign in 1 of every 5 patients with RB.13

Other less common signs and symptoms include a red, painful eye with glaucoma, poor vision, an orbital cellulitis–like condition, or diffuse ocular infiltration involving the iris, ciliary body, and anterior vitreous.1 Atypical manifestations of RB, such as pseudohypopyon, hyphema, or vitreous hemorrhage, can result in misdiagnosis.2,47

Pseudohypopyon is a level of tumor cells in the AC. A few cases with pseudohypopyon and RB have been reported,2,4,7 but we have not found any cases with cystic lesions in the AC, as in the present case; RB may be mistaken for inflammatory ocular disease, especially if the vitreous has tumor seedings obscuring the view of the retinal mass.2

The diagnosis of RB is usually made by fundus examination through a dilated pupil. Noninvasive diagnosis is very important to avoid the potential dissemination of malignant cells. The present case was first misdiagnosed as parasitic endophthalmitis because of the AC lesions and problems visualizing the retinal mass as a result of vitreous haze. Ciliary body medulloepithelioma was also initially suspected because of the cystic formations, but the aspiration biopsy specimen for cytologic analysis of the cysts provided the diagnosis. We believe that through-cornea fine-needle aspiration biopsy has not been reported to increase the risk of dissemination, but it should be avoided if possible. It is useful to perform a computed tomographic scan of the orbit to determine if the tumor extends to the optic nerve or orbit and whether calcification is present, although in 75% of patients, flocculent calcification is already apparent in plain orbital radiographs.1,2

Different treatment modalities are available for RB, depending primarily on the extent of the tumor. Enucleation, radiotherapy, thermotherapy, cryotherapy, and chemotherapy are used alone or in combination.1 Enucleation is the treatment of choice for advanced unilateral, nonfamilial disease.

Multiple AC cystic lesions are an unusual initial sign of advanced RB. To our knowledge, this association is unique. A child who seeks treatment with clinical signs and symptoms of any kind of endophthalmitis, including parasitic, should be considered to have RB until proven otherwise. Avoidance of fine-needle aspiration biopsy in these cases is very important.

The authors have no proprietary interest in any aspect of this report.

Corresponding author and reprints: Javier J. Puig, MD, Hospital Valle de Hebrón, Departamento de Oftalmología, Paseo Valle de Hebrón 119-129, Barcelona 08035, Spain (e-mail: 29213jpg@comb.es).

References
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Shields  JAShields  CLEagle  RCBlair  CJ Spontaneous pseudohypopyon secondary to diffuse infiltrating retinoblastoma. Arch Ophthalmol. 1988;1061301- 1302Article
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Shields  JAShields  CL Retinoblastoma. JA  ShieldsShields  CLAtlas of Intraocular Tumors Philadelphia, Pa Lippincott Williams & Wilkins1999;210- 231
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