Retinoblastoma and Persistent Fetal Vasculature in the Same Eye: Case Report

Abstract

Introduction: Retinoblastoma is the most prevalent intraocular tumor in children, commonly manifesting as leukocoria. Persistent fetal vasculature (PFV) is another cause of leukocoria, resulting from the incomplete regression of fetal eye blood vessels. The simultaneous occurrence of retinoblastoma and PFV in the same eye is extremely uncommon and presents significant diagnostic difficulties.

Case presentation: We present a case involving a 2-year-old girl with leukocoria and esotropia in her left eye. Clinical assessments, including biomicroscopy, ocular ultrasound, and magnetic resonance imaging, identified a retrolental mass with calcifications and a hyperechoic tubular structure, indicating the presence of both retinoblastoma and PFV. Enucleation followed by histopathological analysis confirmed these diagnoses. The histopathology revealed retinoblastoma with Homer-Wright and Flexner-Wintersteiner rosettes and signs of PFV, with persistent large vessels in the retrolental region.

Conclusion: The coexistence of retinoblastoma and PFV in a single eye is rare and complicates the diagnosis of leukocoria. Comprehensive multimodal imaging is crucial for accurate diagnosis and effective management, tailored to the distinct needs of each condition. This case highlights the importance of detailed evaluation in pediatric patients with leukocoria to ensure correct diagnosis and appropriate treatment.

Keywords: Leukocoria; Persistent fetal vasculature; Retinoblastoma.

Fig. 1.

a Left eye leukocoria with esotropia. b Retrolental yellowish mass with superficial hemorrhage with white puntate condensations inside. c Presence of heterogeneous hyperechoic septal lesion connecting the papillary region with the retro-crystalline region. Punctate hyperechoic lesions with posterior acoustic shadowing concentrated in the retro-crystalline portion compatible with calcification. d Doppler exam showing the intrinsic vasculature inside the septal lesion. e T2-weighted orbit MRI showing the heterogeneous hypointense ocular lesion with the intact optic nerve.

Fig. 2.

a Photomicrograph of enucleated globe, panoramic view of the pupil-optic (p–o) nerve section. Retinoblastoma (Rb) is represented as solid tumor areas occupying a large part of the vitreous cavity. A plaque of fibrovascular tissue (white arrow) is attached to optic nerve head (ON) by persistent hyaloid artery (black arrow; details of the circled area are shown in b). The topography of the fibrovascular tissue shown is retrolental; the lens is shown in the nasal calotte (see e), where it was artifactually located due to macroscopic cuts. b Detail of the patent hyaloid artery (white arrow), filled with blood (*), surrounded by the tumor. c Higher magnification view of the fibrovascular tissue, showing loose connective tissue and blood vessels with red blood cells in the lumen (black arrow). The retinoblastoma (Rb) surrounds the fibrovascular tissue. Inset: another level of serial histological section shows a larger vessel in the area of ​​fibrovascular tissue (black arrow). d Invasion of the optic nerve by the tumor, in the prelaminar region (white arrow). e Panoramic view of the nasal calotte. In this histological section, the fibrovascular tissue plate (*) is located adjacent to the detached retina (arrow) and behind the lens (L). f Detail in higher magnification of the anterior region of the nasal calotte. The ciliary processes (CP) are elongated and centrally displaced, with the appearance of adhesion (black arrowhead) to the fibrovascular proliferation plate (*). The retina (R) is detached (arrow). L, lens; CB, ciliary body; Rb, areas of neoplasia.

Fig. 3.

a Detail at higher magnification shows differentiation into Homer-Wright rosettes in retinoblastoma. b Immunohistochemical reaction for the S100 protein antigen shows that the tumor cells are negative. The reaction is positive only in non-neoplastic retinal cells (astrocytes, ganglion cells, and Müller cells). c The antigen glial fibrillary acidic protein (GFAP) stains reactive stromal astrocytes in background and peritumoral tissue and is also negative in tumor cells.