Clinical spectrum of diffuse infiltrating retinoblastoma in 34 consecutive eyes

Abstract

Purpose: To evaluate the clinical features and management of diffuse infiltrating retinoblastoma.

Design: Retrospective case series.

Participants: Thirty-four eyes in 32 patients.

Methods: The patients' records were reviewed for patient and tumor features, ocular management, histopathologic findings, and patient survival.

Main outcome measures: Clinical features, tumor management, and patient survival.

Results: Of 1507 patients with retinoblastoma, only 32 (2%) were classified with diffuse infiltrating retinoblastoma. The mean age at diagnosis was 4 years (range 1.5-16 years). The referring diagnoses included retinoblastoma (26 eyes, 76%), uveitis (3, 9%), Coats disease (1, 3%), trauma (1, 3%), and unspecified retinal problem (3, 9%). The anterior segment displayed tumor seeds on the corneal endothelium (8, 24%), cornea stromal edema (3, 9%), pseudohypopyon (11, 32%), hyphema (3, 9%), iris neovascularization (17, 50%), and iris tumor nodules (6, 18%). The posterior segment revealed extensive ill-defined retinoblastoma infiltrating the retina for a mean basal diameter of 20 mm and overall flat growth, sometimes with undulating retinal thickening. Overlying extensive vitreous tumor seeds (31, 91%) and vitreous hemorrhage (8, 24%) were noted. Calcification was present on ultrasonography (27/34, 79%) and computed tomography (8/9, 89%). Enucleation was performed for all 34 eyes, and there were no cases of metastases at 47 months follow-up.

Conclusions: Diffuse infiltrating retinoblastoma can masquerade as uveitis or unexplained hyphema or keratic precipitates. Suspicion for retinoblastoma is important.

Financial disclosure(s): The authors have no proprietary or commercial interest in any materials discussed in this article.