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Coexistence of persistent fetal vasculature and retinoblastoma in the same eye
Brandon Castillo-Trejo1, José F Pérez-Pérez1, Kouatzin Aguilar-Morales1
1Instituto Mexicano de Oftalmología I.A.P., Querétaro, México.
Insights
Retinoblastoma (RB) and persistent fetal vasculature (PFV) are rare co-diagnoses in pediatric leukocoria. This case highlights the importance of considering both conditions for accurate diagnosis and treatment in children.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Medical Genetics
Background:
- Retinoblastoma (RB) is the most common intraocular malignancy in children, often presenting as leukocoria.
- Persistent fetal vasculature (PFV) is a congenital disorder resulting from incomplete regression of embryonic hyaloid vasculature, potentially causing leukocoria and microphthalmia.
Observation:
- A 2-year-old male presented with leukocoria, an enlarged eyeball, rubeosis iridis, and posterior vasculature.
- Imaging revealed a heterogeneous intraocular mass with calcifications, suggestive of retinoblastoma.
- The patient underwent enucleation due to the suspected diagnosis.
Findings:
- Histopathology confirmed moderately differentiated retinoblastoma coexisting with persistent fetal vasculature (PFV).
- The simultaneous occurrence of RB and PFV in the same eye is exceptionally rare due to distinct pathophysiological origins.
Implications:
- This case underscores the necessity of a comprehensive differential diagnosis for pediatric leukocoria, including rare co-occurrences.
- Accurate and timely diagnosis of coexisting conditions like RB and PFV is critical for optimal management and prognosis in affected children.
Background:
As retinoblastoma (RB) is the most frequent primary intraocular malignant tumor in childhood, it should be the main pathology to rule out in pediatric patients with leukocoria. Persistence of fetal vasculature (PFV) is within the differential diagnosis of leukocoria, a vitreous disorder arising from a defect in the involution of the hyaloid vasculature in the embryonic stage, which affects normal ocular development and commonly produces associated microophthalmia. An early diagnosis and timely treatment are crucial for a better prognosis and life expectancy of the child.
Case Report:
We present a case of retinoblastoma and coexisting with PFV: a 2-years-and 11-months-old male with no red reflex, and vasculature and yellowish-white membrane behind the lens of the right eye. B-mode ultrasound with disorganization of the vitreous cavity with high reflectivity echoes suggestive of calcification. On examination we found an enlarged eyeball, rubeosis iridis, posterior vasculature, intraocular pressure 28 mmHg. Computed tomography with heterogeneous intraocular mass with hyperdense regions. With a diagnosis of probable retinoblastoma, enucleation was performed. Histopathology reported moderately differentiated retinoblastoma coexisting with PFV.
Conclusions:
The finding of these two diagnoses in the same eye is very rare due to the different pathophysiology.
