Abstract
Purpose
To describe a Case of retinoblastoma that presented subtly as a pseudohypopyon in a child with preserved visual acuity.
Observations
A 3-year-old male was referred for concern of hypopyon in the left eye. Initial examination revealed 20/30 vision, a pseudohypopyon, and a large white mass on fundoscopy. Examination under anesthesia revealed extensive retinoblastoma with vitreous seeds and anterior chamber involvement. Enucleation was performed and histology demonstrated retinoblastoma with tumor cells found within the ciliary body, iris, iridocorneal angle, and Schlemm canal. Based on the high-risk histopathology findings, adjuvant chemotherapy was performed.
Conclusions and importance
Retinoblastoma is the most common primary intraocular malignancy in children. Though the classic presentation is leukocoria and/or strabismus, it can present in a variety of ways. Physicians should be aware that retinoblastoma, even severe forms, can present subtly with pseudohypopyon and preserved vision. Adjuvant chemotherapy for anterior segment involvement remains controversial.
1
Introduction
Retinoblastoma is the most common primary intraocular malignancy of childhood. Leukocoria is the most common presenting sign and is seen in the majority of cases (56%), followed by strabismus (24%). Retinoblastoma may present with a diverse range of signs and symptoms. Specifically, retinoblastoma can masquerade as uveitis or infection. Diagnosis of retinoblastoma is difficult in patients who present atypically. Here, we present a child with excellent vision who presented with a pseudohypopyon. Multimodal imaging revealed extensive unilateral retinoblastoma. The patient underwent enucleation and adjuvant systemic chemotherapy based on high-risk features on histopathology.
2
Case presentation
A 3-year-old boy was referred by an outside ophthalmologist who diagnosed a “hypopyon” in the left eye after the boy’s grandmother noted a “white spot” in his eye. He was a healthy child with an unremarkable, full-term birth history, and there were no significant diseases in the family. This very cooperative patient denied any vision changes or symptoms, including photophobia, and a comprehensive review of systems was negative, including a lack of fever, chills, fatigue, weight loss, joint pain, and rash. Uncorrected Lea visual acuity was 20/20 OD and 20/30 OS. Intraocular pressure by iCare tonometry was 17 OD and 24 OS. Pupils and eye movements were within normal limits OU. The conjunctiva was without hyperemia in both eyes. Slit lamp examination of the left eye revealed a 2 mm pseudohypopyon in the anterior chamber with layered red cells within it ( Fig. 1 ) as well as punctate white lesions on the left iris. No circulating cells or flare was present in the anterior chamber and no keratoprecipitates were present. There were clumps of white cells in the vitreous, and on fundoscopic exam superonasally there was a large, white mass with tortuous feeder-vessels and subretinal exudation ( Fig. 2 A). Examination of the right eye was unremarkable.
Initial exam raised concern for likely retinoblastoma. The patient was urgently taken for an exam under anesthesia, where fluorescein angiography demonstrated prominent feeder and drainage vessels, retinal vascular dilatation and telangiectasias, late vascular leakage, terminal vascular bulbs with extensive subretinal exudation, and prominent iris neovascularization with leakage ( Fig. 2 B and C ). B-scan ultrasonography of the left eye showed a large 6 × 8mm superonasal retinal mass with calcifications ( Fig. 3 ). The right eye was confirmed to be unremarkable. An MRI of the brain and orbits did not show any extraocular extension of the tumor or any intracranial lesions.
This multimodal imaging confirmed retinoblastoma, Group E (cT3c), with infiltration of the anterior segment. After a fully informed discussion of the findings, prognosis, and treatment options, including systemic chemotherapy, intra-arterial chemotherapy, likely with intracameral chemotherapy, and enucleation, the family opted to pursue primary enucleation.
Histopathology of the enucleated eye revealed extensive tumor in both posterior and anterior segments including infiltration into the ciliary body, iris, and iridocorneal angle (pT2b). Tumor cells were identified within Schlemm canal with concern for possible extraocular extension through the aqueous outflow system ( Fig. 4 ). Given massive ciliary body involvement and involvement of outflow structures the eye was considered best categorized as high risk.Options regarding continued surveillance versus adjuvant chemotherapy was undertaken with the family and oncology service. They opted for chemotherapy and 6 cycles of vincristine, etoposide and carboplatin were administered. Genetic testing was negative, as were the ocular examinations of all family members. Surveillance of the right eye is ongoing and is still unremarkable.
