Retinoblastoma (RB) is the most frequently occurring intraocular malignant
tumor of childhood.1- 3 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.
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.
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).
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
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.
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
High magnification of the retinal
tumor shows neoplastic cells with hyperchromatic nuclei, scant cytoplasm,
and increased mitotic activity (hematoxylin-eosin, original magnification
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.1- 3
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.2,4- 7
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: firstname.lastname@example.org).
Puig JJ, Arrondo E, García-Arumí J, Gil JJ, Huguet P, Calatayud M. Multiple Anterior Chamber Cystic Lesions as the First Sign of Advanced Retinoblastoma. Arch Ophthalmol. 2002;120(10):1385-1388. doi: